Dermatology

up to 12 genes

Invitae Melanoma Panel

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Genetic testing for up to 12 genes associated with an increased lifetime risk of developing melanoma as well as other cancer types.

2 genes

Invitae Melanoma-Pancreatic Cancer Syndrome Panel

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Genetic testing for CDKN2A and CDK4 which cause melanoma-pancreatic cancer syndrome (M-PCS) and familial atypical mole-malignant melanoma syndrome (FAMMM).

3 genes

Invitae Schwannomatosis Panel

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Genetic testing for the LZTR1, NF2 and SMARCB1 genes, associated with hereditary predisposition to schwannomatosis.

up to 3 genes

Invitae Basal Cell Nevus Syndrome Panel

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Genetic testing for PTCH1 which is associated with basal cell nevus syndrome (BCNS), also known as Gorlin syndrome.

1 gene

Invitae Birt-Hogg-Dubé Syndrome Test

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Genetic testing for FLCN which is associated with Birt-Hogg-Dubé syndrome, affecting the skin, lungs, and kidneys with predisposition to pneumothorax and renal cancer.

5 genes

Invitae Lynch Syndrome Panel

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Genetic testing for 5 genes associated with Lynch syndrome. This condition increases the risk for colorectal, ovarian, and uterine cancer.

up to 2 genes

Invitae Neurofibromatosis Type 2 Test

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This test analyzes NF2, which is associated with neurofibromatosis type 2, a condition predisposing those who have it to the development of benign central nervous system tumors.

2 genes

Invitae Tuberous Sclerosis Complex Panel

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Genetic testing for TSC1 and TSC2 which are associated with tuberous sclerosis complex (TSC) featuring kidney, brain, skin, lung, and heart tumors.

8 genes

Invitae Adams-Oliver Syndrome Panel

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The Invitae Adams-Oliver Syndrome Panel analyzes genes that are associated with Adams-Oliver syndrome, scalp-ear-nipple syndrome, and Johanson-Blizzard syndrome, which are characterized by cutis aplasia of the scalp and various other abnormalities including limb defects and/or congenital heart defects. These genes were selected based on the available evidence to date to provide a broad analysis for Adams-Oliver and related conditions.

46 genes

Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

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The Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel analyzes genes that are associated with epidermolysis bullosa, palmoplantar keratoderma, and related conditions, which are characterized by skin fragility or thickening of the skin on the palms and soles. These genes were selected based on the available evidence to date to provide a broad analysis for inherited epidermolysis bullosa and palmoplantar keratoderma.

46 genes

Invitae Congenital Ichthyosis Panel

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The Invitae Congenital Ichthyosis Panel analyzes genes that are associated with congenital or early onset ichthyosis and related skin diseases, which are characterized by thick, dry, scaly, and/or reddened skin, a collodion membrane, or thickening of the skin on the palms and soles at birth or in early childhood. These genes were selected based on the available evidence to date to provide a broad analysis for inherited congenital ichthyosis.

23 genes

Invitae Oculocutaneous Albinism Panel

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The Invitae Oculocutaneous Albinism Panel analyzes genes that are associated with syndromic and nonsyndromic forms of oculocutaneous albinism which is characterized by hypopigmentation of the hair, skin, and eyes. These genes were selected based on the available evidence to date to provide a broad analysis for inherited oculocutaneous albinism.

9 genes

Invitae Xeroderma Pigmentosum Panel

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The Invitae Xeroderma Pigmentosum Panel analyzes genes that are associated with xeroderma pigmentosum (XP), which is generally characterized by an extreme sensitivity to ultraviolet (UV) exposure. These genes were selected based on the available evidence to date to provide a broad analysis for inherited XP.

6 genes

Invitae Cardio-Facio-Cutaneous Syndrome Panel

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Genetic testing for 6 genes associated with cardio-facio-cutaneous (CFC) syndrome—characterized by symptoms affecting the heart, facial features, skin, hair, and cognition.

up to 10 genes

Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel

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Genetic testing for up to 10 genes that are associated ectodermal dysplasia (ED), a group of conditions characterized by abnormal development of skin, hair, teeth, nails, and sweat glands.

up to 2 genes

Invitae Legius Syndrome Test

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Genetic testing for Legius syndrome, a condition with clinical overlap with neurofibromatosis type 1 and characterized by café-au-lait spots, axillary and inguinal freckling, macrocephaly and lipomas.

2 genes

Invitae van der Woude Syndrome Panel

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Genetic testing for two genes that are associated with van der Woude syndrome (VDWS), which is characterized by cleft lip or cleft palate and by bilateral paramedian lower lip pits.

To add genes to your cart, first select a clinical area to see available combinations

  • Clinical Area: Hereditary Cancer
  • Clinical Area: Pediatric and Rare Disease

Gene
A
AAGAB

The AAGAB gene is associated with autosomal dominant keratosis palmoplantaris papulosa (MedGen UID: 372099).

ABCA12

The ABCA12 gene is associated with autosomal recessive congenital ichthyosis (MedGen UID: 108615, 371355).

ABHD5

The ABHD5 gene is associated with autosomal recessive Chanarin-Dorfman syndrome (CDS) (MedGen UID: 82780).

ALDH3A2

The ALDH3A2 gene is associated with autosomal recessive Sjögren-Larsson syndrome (SLS) (MedGen UID: 11443).

ALOX12B

The ALOX12B gene is associated with autosomal recessive congenital ichthyosis (MedGen UID: 854762).

ALOXE3

The ALOXE3 gene is associated with autosomal recessive congenital ichthyosis (ARCI) (MedGen UID: 383774).

AP1S1

The AP1S1 gene is associated with autosomal recessive intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma, also known as MEDNIK syndrome (MedGen UID: 833683).

AP3B1

The AP3B1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (HPS) type 2 (MedGen UID: 374912).

AP3D1

The AP3D1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 36313). Additionally, the AP3D1 gene has preliminary evidence supporting a correlation with autosomal dominant schizophrenia (PMID: 24463507) and autosomal dominant autism spectrum disorder (PMID: 25363768, 29346770).

AQP5

The AQP5 gene is associated with autosomal dominant diffuse palmoplantar keratoderma, Bothnian type (MedGen UID: 325011).

ARHGAP31

The ARHGAP31 gene is associated with autosomal dominant Adams-Oliver syndrome (AOS) (MedGen UID: 472018). Additionally, the ARHGAP31 gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular outflow tract obstruction (PMID: 27760138).

ATP2C1

The ATP2C1 gene is associated with autosomal dominant familial benign pemphigus, also known as Hailey-Hailey disease (MedGen UID: 43100).

B
BAP1

The BAP1 gene is associated with autosomal dominant BAP1 tumor predisposition syndrome (MedGen UID: 482122). There is additional evidence to suggest BAP1 is associated with risk of meningioma (PMID: 26140217, 21941004). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

BLOC1S3

The BLOC1S3 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854728).

BLOC1S6

The BLOC1S6 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (HPS) type 9 (MedGen UID: 481656).

BRAF

The BRAF gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 462320), Noonan syndrome with Multiple Lentigines (NSML) (MedGen UID: 462321) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 852267).

BRCA1

The BRCA1 gene is associated with autosomal dominant hereditary breast and ovarian cancer (HBOC) syndrome (MedGen UID: 151793).

BRCA2

The BRCA2 gene is associated with autosomal dominant hereditary breast and ovarian cancer (HBOC) syndrome (MedGen UID: 151793) and autosomal recessive Fanconi anemia, type D1 (FA-D1) (MedGen UID: 325420).

C
C10orf11

The LRMDA gene (formerly known as C10orf11) is associated with autosomal recessive oculocutaneous albinism, type 7 (MedGen UID: 815116).

CAST

The CAST gene is associated with autosomal recessive PLACK (Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads) syndrome (MedGen UID: 902464). Additionally, the CAST gene has preliminary evidence supporting a correlation with keratoconus (PMID: 29924831).

CD151

The CD151 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephropathy with pretibial epidermolysis bullosa and deafness (MedGen UID: 323004).

CDK4

The CDK4 gene is associated with autosomal dominant predisposition to cutaneous melanoma (MedGen UID: 268851).

CDKN2A

The CDKN2A gene is associated with autosomal dominant melanoma-pancreatic cancer syndrome (MedGen UID: 325450) and melanoma-neural system tumor (NST) syndrome (MedGen UID: 331890). The CDKN2A gene encodes two main proteins, p16INK4a and p14ARF.

CDSN

The CDSN gene is associated with autosomal recessive peeling skin syndrome (MedGen UID: 336530) and autosomal dominant hypotrichosis simplex (MedGen UID: 374435).

CERS3

The CERS3 gene is associated with autosomal recessive nonsyndromic congenital ichthyosis (MedGen UID: 767263)

CLDN1

The CLDN1 gene is associated with autosomal recessive ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome (MedGen UID: 334382).

COL17A1

The COL17A1 gene is associated with autosomal recessive junctional epidermolysis bullosa (JEB) (MedGen UID: 82798), and autosomal dominant amelogenesis imperfecta (PMID: PMID 8669466, 17344927) and epithelial recurrent erosion dystrophy (ERED) (MedGen UID: 342263).

COL7A1

The COL7A1 gene is associated with autosomal dominant dystrophic epidermolysis bullosa (DDEB) (MedGen UID: 37179) and autosomal recessive dystrophic epidermolysis bullosa (RDEB) (MedGen UID: 36311).

CTSC

The CTSC gene is associated with autosomal recessive Papillon-Lefevre syndrome (MedGen UID: 45306), Haim-Munk syndrome (MedGen UID: 344539), and aggressive periodontitis (MedGen UID: 10661).

CYP4F22

The CYP4F22 gene is associated with autosomal recessive congenital ichthyosis (ARCI) (MedGen: 347628).

D
DDB2

The DDB2 gene is associated with autosomal recessive xeroderma pigmentosum (MedGen UID: 341219).

DLL4

The DLL4 gene is associated with autosomal dominant Adams-Oliver syndrome (MedGen UID: 908556).

DOCK6

The DOCK6 gene is associated with autosomal recessive Adams-Oliver syndrome (AOS) (MedGen UID: 481812).

DSG1

The DSG1 gene is associated with autosomal dominant keratosis palmoplantaris striata (MedGen UID: 419717) and autosomal recessive erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE (MedGen UID: 816049).

DSP

The DSP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 336069) and dilated cardiomyopathy (DCM) with woolly hair, keratoderma and tooth agenesis (MedGen UID: 808093), as well as autosomal recessive DCM with woolly hair and keratoderma (MedGen UID: 340124).

DST

The DST gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 6 (HSAN6) (MedGen UID: 761278) and epidermolysis bullosa simplex 2 (EBSB2) (MedGen UID: 815800). Detection of variants in the neuronal isoform dystonin-a2 transcript (NM_001144769) is not guaranteed with the current assay (PMID: 32042917).

DTNBP1

The DTNBP1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 481386).

E
EBP

The EBP gene is associated with X-linked dominant chondrodysplasia punctata type II (CDPX2) (MedGen UID: 79381), and X-linked recessive male EBP disorder with neurological defects (MEND) (MedGen UID: 905986).

EDA

The EDA gene is associated with X-linked hypohidrotic ectodermal dysplasia (HED) (MedGen UID: 57890) and tooth agenesis (PMID: 28981473).

EDAR

The EDAR gene is associated with autosomal recessive and dominant hypohidrotic ectodermal dysplasia (HED) (MedGen UID: 96067, 314095) and autosomal dominant tooth agenesis (PMID: 28981473).

EDARADD

The EDARADD gene is associated with autosomal dominant and autosomal recessive hypohidrotic ectodermal dysplasia (MedGen UID: 314095, 96067). Additionally, the EDARADD gene has preliminary evidence supporting a correlation with tooth agenesis (PMID: 23991204).

ELOVL1

The ELOVL1 gene is associated with autosomal dominant ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features (IKSHD)(MedGen UID: 1682428).

ELOVL4

The ELOVL4 gene is associated with autosomal dominant Stargardt-like macular degeneration (MedGen UID: 333146), autosomal dominant spinocerebellar ataxia 34 (also known as erythrokeratodermia with ataxia) (MedGen UID: 338703), and autosomal recessive ichthyosis, spastic quadriplegia, and intellectual disability (ISQID) (MedGen UID: 482486).

ENPP1

The ENPP1 gene is associated with autosomal recessive hypophosphatemic rickets 2 (ARHR2) (MedGen UID: 442380), generalized arterial calcification of infancy type 1 (GACI1) (MedGen UID: 395331), and autosomal dominant Cole disease (COLED) (MedGen UID: 816111). Additionally, the ENPP1 gene has preliminary evidence supporting a correlation with autosomal recessive Cole disease (PMID: 28964717).

EOGT

The EOGT gene is associated with autosomal recessive Adams-Oliver syndrome (AOS) (MedGenUID: 815422).

EPCAM
ERCC1

The ERCC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Cockayne syndrome (PMID: 23623389, 17273966) and xeroderma pigmentosum (PMID: 23623389).

ERCC2

The ERCC2 gene is associated with autosomal recessive photosensitive trichothiodystrophy (TTD) (MedGen UID: 355730) and xeroderma pigmentosum, group D (XPD) (MedGen UID: 75656). Additionally, the ERCC2 gene has preliminary evidence supporting a correlation with a combined phenotype including both xeroderma pigmentosum and trichothiodystrophy (XP-TTD) (PMID: 11709541) as well as xeroderma pigmentosum and Cockayne syndrome (XP-CS) (PMID: 7825573).

ERCC3

The ERCC3 gene is associated with autosomal recessive xeroderma pigmentosum/Cockayne syndrome (MedGen UID: 373493).

ERCC4

The ERCC4 gene is associated with autosomal recessive Fanconi anemia, type Q (MedGen UID: 815318) and xeroderma pigmentosa, group F (XPF) (MedGen UID: 120612). Studies also suggest ERCC4 may be associated with autosomal recessive Cockayne syndrome (PMID: 23623389). The data, however, are preliminary and available evidence is insufficient to make a determination regarding this relationship.

ERCC5

The ERCC5 gene is associated with autosomal recessive xeroderma pigmentosum (XP) (MedGen UID: 75657), cerebrooculofacioskeletal (COFS) syndrome (MedGen UID: 342008), and XP/Cockayne syndrome (PMID: 23370536).

EXPH5

The EXPH5 gene is associated with autosomal recessive epidermolysis bullosa simplex (MedGen UID: 767281).

F
FERMT1

The FERMT1 gene is associated with autosomal recessive Kindler syndrome (MedGen UID: 96060).

FLCN

The FLCN gene is associated with autosomal dominant Birt-Hogg-Dubé (BHD) syndrome (MedGen UID: 91070). Studies suggest that BHD is also associated with an increased risk of colon polyps and colon cancer (PMID: 20522427, 20392993). The data, however, are preliminary and insufficient to made a determination regarding this relationship.

FRMD7

The FRMD7 gene is associated with X-linked infantile nystagmus (MedGen UID: 333352).

G
GJA1

The GJA1 gene is associated with autosomal dominant and recessive oculodentodigital dysplasia (ODDD) (MedGen UID: 167236) and autosomal dominant erythrokeratodermia variabilis et progressiva (EKVP) (MedGen UID: 1380593). Additionally, the GJA1 gene has preliminary evidence supporting a correlation with autosomal recessive craniometaphyseal dysplasia (MedGen UID: 419753), autosomal dominant syndactyly type 3 (MedGen UID: 396117), and autosomal dominant structural heart defects (PMID: 7715640).

GJB2

The GJB2 gene is associated with autosomal recessive and autosomal dominant non-syndromic deafness (MedGen UIDs: 388720, 436512). Additionally, the GJB2 gene is associated with autosomal dominant syndromic deafness including Bart-Pumphrey syndrome (MedGen UID: 82727), hystrix-like ichthyosis with deafness (HID) (MedGen UID: 355410), palmoplantar keratoderma with deafness (PPK) (MedGen UID: 332030), Vohwinkel syndrome (MedGen UID: 78579), and keratitis-ichthyosis-deafness (KID) syndrome (MedGen UID: 120536).

GJB3

The GJB3 gene is associated with autosomal dominant and recessive erythrokeratodermia variabilis (EKVP) (MedGen UID: 133200). In addition, there is preliminary evidence supporting a correlation with autosomal dominant and recessive forms of deafness (MedGen UID: 612644, 388720).

GJB4

The GJB4 gene is associated with autosomal dominant erythrokeratodermia variabilis (EKVP) (MedGen UID: 75587). Additionally, the GJB4 gene has preliminary evidence supporting a correlation with non-syndromic deafness (PMID: 17259707).

GJB6

The GJB6 gene is associated with autosomal dominant Clouston type ectodermal dysplasia 2 (ECTD2) (MedGen UID: 56416). Additionally, the GJB6 gene has preliminary evidence supporting an association with autosomal recessive non-syndromic deafness (DFNB1B) (MedGen UID: 436381), autosomal dominant non-syndromic deafness (DFNA3B) (MedGen UID: 382182) and digenic inheritance of deafness with the GJB2 gene (MedGen UID: 388720).

GPR143

The GPR143 gene is associated with X-linked congenital nystagmus (MedGen UID: 463102) and ocular albinism (MedGen UID: 90991).

GRHL3

The GRHL3 gene is associated with autosomal dominant van der Woude syndrome (MedGen UID: 338272).

H
HPS1

The HPS1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 1 (HPS1) (MedGen UID: 419514).

HPS3

The HPS3 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 3 (HPS3) (MedGen UID: 854708).

HPS4

The HPS4 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 483344).

HPS5

The HPS5 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854711).

HPS6

The HPS6 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854714).

I
IRF6

The IRF6 gene is associated with autosomal dominant popliteal pterygium syndrome (MedGen UID: 78543) and autosomal dominant van der Woude syndrome (MedGen UID:61233). Additionally, the IRF6 gene has preliminary evidence supporting a correlation with non-syndromic orofacial cleft (MedGen UID: 332391).

ITGA3

The ITGA3 gene is associated with autosomal recessive interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB) (MedGen UID: 766550).

ITGA6

The ITGA6 gene is associated with autosomal recessive epidermolysis bullosa with pyloric atresia (EB-PA) (MedGen UID: 384018).

ITGB4

The ITGB4 gene is associated with autosomal recessive epidermolysis bullosa with or without pyloric atresia (MedGen UID: 82798, 384018). Additionally, the ITGB4 gene has preliminary evidence supporting a correlation with steroid resistant nephrotic syndrome (PMID: 25349199, 30712057) and autosomal dominant epidermolysis bullosa (PMID: 26817667).

J
JUP

The JUP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 409749) and autosomal recessive Naxos disease (MedGen UID: 321991).

K
KANK2

The KANK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephrotic syndrome (MedGen UID: 1622427) and autosomal recessive keratoderma with woolly hair (MedGen UID: 863639).

KCTD1

The KCTD1 gene is associated with autosomal dominant scalp-ear-nipple (SEN) syndrome (MedGen UID: 357183).

KDSR

The KDSR gene is associated with autosomal recessive progressive symmetric erythrokeratoderma (MedGen UID: 1372799).

KLHL24

The KLHL24 gene is associated with autosomal dominant epidermolysis bullosa simplex (MedGen UID: 934598).

KRAS

The KRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 349931), cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501102) and Costello syndrome (PMID: 17056636, 17468812).

KRT1

The KRT1 gene is associated with autosomal dominant epidermolytic ichthyosis (MedGen UID: 334410).

KRT10

The KRT10 gene is associated with autosomal dominant and autosomal recessive epidermolytic ichthyosis (MedGen UID: 38179).

KRT14

The KRT14 gene is associated with autosomal dominant and recessive epidermolysis bullosa simplex (MedGen UID: 87016 and 811576) and autosomal dominant Naegeli-Franceschetti-Jadassohn syndrome (MedGen UID: 91010).

KRT16

The KRT16 gene is associated with autosomal dominant pachyonychia congenita (MedGen UID: 353335).

KRT17

The KRT17 gene is associated with autosomal dominant pachyonychia congenita (MedGen UID: 314107) and autosomal dominant steatocystoma multiplex (MedGen UID: 75476).

KRT2

The KRT2 gene is associated with autosomal dominant ichthyosis bullosa of Siemens (MedGen UID: 98153).

KRT5

The KRT5 gene is associated with autosomal dominant and recessive epidermolysis bullosa simplex (MedGen UID: 140934 and 811576) and autosomal dominant Dowling-Degos disease (MedGen UID: 1645697).

KRT6A

The KRT6A gene is associated with autosomal dominant pachyonychia congenita (MedGen UID: 811523).

KRT6B

The KRT6B gene is associated with autosomal dominant pachyonychia congenita (MedGen UID: 811524).

KRT6C

The KRT6C gene is associated with autosomal dominant focal palmoplantar keratoderma (MedGen UID: 816724).

KRT9

The KRT9 gene is associated with autosomal dominant epidermolytic palmoplantar keratoderma (MedGen UID: 354561).

L
LAMA3

The LAMA3 gene is associated with autosomal recessive junctional epidermolysis bullosa (JEB) (MedGen UID: 36328) and laryngoonychocutaneous syndrome (LOC) (MedGen UID: 272227), and autosomal dominant amelogenesis imperfecta (PMID: 22434185, 27827380).

LAMB3

The LAMB3 gene is associated with autosomal recessive junctional epidermolysis bullosa (JEB) (MedGen UID: 36328) and autosomal dominant amelogenesis imperfecta (MedGen UID: 859840).

LAMC2

The LAMC2 gene is associated with autosomal recessive junctional epidermolysis bullosa (JEB) (MedGen UID: 36328).

LIPN

The LIPN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital ichthyosis (PMID: 21439540).

LOR

The LOR gene is associated with autosomal dominant Vohwinkel syndrome with ichthyosis (MedGen UID: 395099).

LTBP3

The LTBP3 gene is associated with autosomal dominant geleophysic dysplasia (MedGen UID: 1615724) and autosomal recessive dental anomalies and short stature (MedGen UID: 318659). There is preliminary evidence for supporting a correlation with autosomal dominant thoracic aortic aneurysm and dissection (TAAD) (PMID: 29625025).

LYST

The LYST gene is associated with autosomal recessive Chediak-Higashi syndrome (CHS) (MedGen UID: 3347).

LZTR1

The LZTR1 gene is associated with autosomal dominant schwannomatosis (MedGen UID: 816613). In addition, LZTR1 is associated with autosomal dominant and autosomal recessive Noonan spectrum disorders (NSDs) (MedGen UID: 902892, OMIM: 605275).

M
MAP2K1

The MAP2K1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 18073) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 815336).

MAP2K2

The MAP2K2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 18073) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 815337).

MBTPS2

The MBTPS2 gene is associated with X-linked ichthyosis follicularis with atrichia and photophobia (MedGen UID: 327007) and osteogenesis imperfecta (MedGen UID: 1648353).

MC1R

The MC1R gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant cutaneous malignant melanoma (MedGen UID: 416516).

MITF

The MITF gene is associated with autosomal dominant Waardenburg syndrome (MedGen UID: 349786) and autosomal recessive COMMAD syndrome (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (MedGen UID: 934592)). The c.952G>A (p.Glu318Lys) variant in MITF is associated with autosomal dominant predisposition to cutaneous malignant melanoma (MedGen UID: 463554).

MLH1

The MLH1 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 232603) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

MLPH

The MLPH gene is associated with autosomal recessive Griscelli syndrome, type 3 (GS3) (MedGen UID: 373124).

MSH2

The MSH2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 423615) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

MSH6

The MSH6 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 318886) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

MSX1

The MSX1 gene is associated with autosomal dominant tooth agenesis (MedGen UID: 43794). Additionally, the MSX1 gene has preliminary evidence supporting a correlation with autosomal dominant orofacial clefting and ectodermal dysplasia affecting the teeth and nails, also known as Witkop syndrome (PMID: 11369996).

MYO5A

The MYO5A gene is associated with autosomal recessive Griscelli syndrome, type 1 (GS1) (MedGen UID: 347092).

N
NF1

The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013), neurofibromatosis-Noonan syndrome (NFNS) (MedGen UID: 419089) and Watson syndrome (MedGen UID: 107817).

NF2

The NF2 gene is associated with autosomal dominant neurofibromatosis type 2 (NF2) (MedGen UID: 18014).

NFKBIA

The NFKBIA gene is associated with autosomal dominant anhidrotic ectodermal dysplasia with T-cell immunodeficiency (EDA-ID) (MedGen UID: 394295).

NIPAL4

The NIPAL4 gene is associated with autosomal recessive congenital ichthyosis (MedGen UID: 436851).

NOTCH1

The NOTCH1 gene is associated with autosomal dominant aortic valve disorder (MedGen UID: 226776) and Adams-Oliver syndrome (MedGen UID: 807523).

O
OCA2

The OCA2 gene is associated with autosomal recessive oculocutaneous albinism (OCA) type 2 (MedGen UID: 82810).

P
PAX9

The PAX9 gene is associated with autosomal dominant tooth agenesis (MedGen UID: 43794).

PEX7

The PEX7 gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata (RCDP) (MedGen UID: 347072) and autosomal recessive Refsum disease (MedGen UID:11161).

PHYH

The PHYH gene is associated with autosomal recessive Refsum disease (MedGen UID: 11161).

PKP1

The PKP1 gene is associated with autosomal recessive ectodermal dysplasia/skin fragility syndrome (MedGen UID: 388032).

PLEC

The PLEC gene is associated with autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBSMD) (MedGen UID: 418981), epidermolysis bullosa simplex with pyloric atresia (EBSPA) (MedGen UID: 436922), and limb-girdle muscular dystrophy type 2Q (LGMD2Q) (MedGen UID: 462339). Additionally, the c.5998C>T (p.Arg2000Trp) variant in PLEC is associated with autosomal dominant epidermolysis bullosa simplex, Ogna type (EBSOG) (MedGen UID: 98488).

PMS2

The PMS2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 325005) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

PNPLA1

The PNPLA1 gene is associated with autosomal recessive congenital ichthyosis (MedGen UID: 767269).

POLH

The POLH gene is associated with autosomal recessive xeroderma pigmentosum (MedGen UID: 376352).

POMP

The POMP gene is associated with autosomal dominant proteasome-associated autoinflammatory syndrome type 2 (PRAAS2) (MedGen UID: 1648482) and autosomal recessive keratosis linearis with ichthyosis congenita and sclerosis keratoderma (KLICK) syndrome (MedGen UID: 356430).

POT1

The POT1 gene is associated with autosomal dominant POT1 tumor predisposition syndrome (MedGen UID: 862913).

PTCH1

The PTCH1 gene is associated with autosomal dominant basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (MedGen UID: 2554). There is also evidence suggesting PTCH1 may be associated with autosomal dominant holoprosencephaly (HPE) (MedGen: 372134). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

PTCH2

The PTCH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (MedGen UID: 2554).

PTEN

The PTEN gene is associated with autosomal dominant PTEN hamartoma tumor syndrome (PHTS) including the clinical subtypes of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and PTEN-related autism spectrum disorder (MedGen UID: 368366). Other PTEN-associated conditions have been described (PMID: 11755638, 17392703, 27890237).

PTPN11

The PTPN11 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 1638960), Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 1631694), and metachondromatosis (MedGen UID: 98377).

Q
R
RAB27A

The RAB27A gene is associated with autosomal recessive Griscelli syndrome type 2 (GS2) (MedGen UID: 357030).

RAF1

The RAF1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 370589), Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 370588), and dilated cardiomyopathy (MedGen UID: 863093).

RB1

The RB1 gene is associated with autosomal dominant retinoblastoma (MedGen UID: 20552). Additionally, evidence of varying degrees suggests a possible association between RB1 and several cancer types in retinoblastoma survivors (PMID: 14996857, 22355046).

RBPJ

The RBPJ gene is associated with autosomal dominant Adams-Oliver syndrome (MedGen UID: 766662).

RHBDF2

The RHBDF2 gene is associated with autosomal dominant tylosis with esophageal cancer (MedGen UID: 324338).

RSPO1

The RSPO1 gene is associated with autosomal recessive palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal (MedGen UID: 461281).

S
SDR9C7

The SDR9C7 gene is associated with autosomal recessive congenital ichthyosis (ARCI) (MedGen UID: 1620886).

SERPINB7

The SERPINB7 gene is associated with autosomal recessive Nagashima-type palmoplantar keratoderma (MedGen UID: 816402).

SERPINB8

The SERPINB8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive exfoliative ichthyosis (PMID: 27476651).

SHOC2

The SHOC2 gene is associated with autosomal dominant Noonan-like syndrome with loose anagen hair (MedGen UID: 1379805).

SLC24A5

The SLC24A5 gene is associated with autosomal recessive oculocutaneous albinism (OCA) (MedGen UID: 811705).

SLC27A4

The SLC27A4 gene is associated with autosomal recessive ichthyosis prematurity syndrome (MedGen UID: 324839).

SLC38A8

The SLC38A8 gene is associated with autosomal recessive foveal hypoplasia (MedGen UID: 814203).

SLC45A2

The SLC45A2 gene is associated with autosomal recessive oculocutaneous albinism type 4 (OCA4) (MedGen UID: 338324).

SLURP1

The SLURP1 gene is associated with autosomal recessive Mal de Meleda (MDM)(MedGen UID: 7522).

SMARCB1

The SMARCB1 gene is associated with autosomal dominant rhabdoid tumor predisposition syndrome 1 (RTPS1) (MedGen UID: 322892), schwannomatosis (MedGen UID: 234775) and Coffin-Siris syndrome (MedGen UID: 766162).

SNAP29

The SNAP29 gene is associated with autosomal recessive cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome (MedGen UID: 332113).

SOS1

The SOS1 gene is associated with autosomal dominant Noonan spectrum disorders (MedGen UID: 339908) and hereditary gingival fibromatosis (PMID: 11868160).

SPINK5

The SPINK5 gene is associated with autosomal recessive Netherton syndrome (MedGen UID: 78578).

SPRED1

The SPRED1 gene is associated with autosomal dominant Legius syndrome (MedGen UID: 370709).

ST14

The ST14 gene is associated with autosomal recessive congenital ichthyosis (MedGen UID: 332073).

STS

The STS gene is associated with X-linked ichthyosis (MedGen UID: 86937).

SUFU

The SUFU gene is associated with autosomal dominant basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (MedGen UID: 2554) and autosomal recessive Joubert syndrome (MedGen UID: 1626697).

SULT2B1

The SULT2B1 gene is associated with autosomal recessive congenital ichthyosis (PMID: 28575648, 30578701).

SUMF1

The SUMF1 gene is associated with autosomal recessive multiple sulfatase deficiency (MSD) (MedGen UID: 75664).

T
TAT

The TAT gene is associated with autosomal recessive tyrosinemia type II (MedGen UID: 75687).

TERT

The TERT gene is associated with both autosomal dominant and autosomal recessive TERT-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462793).

TGM1

The TGM1 gene is associated with autosomal recessive congenital ichthyosis (ARCI) (MedGen UID: 760723)

TP53

The TP53 gene is associated with autosomal dominant Li-Fraumeni syndrome (LFS) (MedGen UID: 322656).

TP63

The TP63 gene is associated with autosomal dominant acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome (MedGen UID: 400232), ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) (MedGen UID: 347666), Hay-Wells syndrome (MedGen UID: 98032), limb-mammary syndrome (MedGen UID: 355051), Rapp-Hodgkin syndrome (MedGen UID: 315656), and split-hand/foot malformation (MedGen UID: 343120), collectively known as TP63-related conditions.

TRPV3

The TRPV3 gene is associated with autosomal dominant Olmsted syndrome (MedGen UID: 435863).

TSC1

The TSC1 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 344288).

TSC2

The TSC2 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 348170).

TYR

The TYR gene is associated with autosomal recessive oculocutaneous albinism type 1A (OCA1A) (MedGen UID: 1643910) and type 1B (OCA1B) (MedGen UID: 337712).

TYRP1

The TYRP1 gene is associated with autosomal recessive oculocutaneous albinism type 3 (MedGen UID: 87450).

U
UBR1

The UBR1 gene is associated with autosomal recessive Johanson-Blizzard syndrome (MedGen UID: 59798).

V
VPS33B

The VPS33B gene is associated with autosomal recessive arthrogryposis, renal dysfunction, and cholestasis 1 (ARCS1) (MedGen UID: 347219).

W
WNT10A

The WNT10A gene is associated with autosomal recessive types of ectodermal dysplasia (MedGen UID: 208666, 347366) and autosomal dominant tooth agenesis (MedGen UID: 372057).

X
XPA

The XPA gene is associated with autosomal recessive xeroderma pigmentosum (XP) (MedGen UID: 82775).

XPC

The XPC gene is associated with autosomal recessive xeroderma pigmentosum (MedGen UID: 416702).

Y
Z
ZMPSTE24

The ZMPSTE24 gene is associated with autosomal recessive restrictive dermopathy (RD) (MedGen UID: 98356) and mandibuloacral dysplasia with type B lipodystrophy (MADB) (MedGen UID: 332940).