Invitae Congenital Disorders of Glycosylation Panel
Test description
The Invitae Congenital Disorders of Glycosylation Panel analyzes genes that are associated with congenital disorders of glycosylation (CDGs). This test is useful for the diagnosis of patients in whom a congenital disorder of glycosylation is suspected due to clinical symptoms or biochemical findings, such as abnormal transferrin isoelectric focusing.
This panel covers:
- disorders of N-linked glycosylation, including type I and type II
- conserved oligomeric golgi (COG) complex defects
- disorder of deglycosylation (NGLY1), GPI-anchor synthesis defects, and heparan sulfate and chondroitin sulfate synthesis defects
- preliminary evidence genes for CDGs
Genes tested
A4GALT ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ARCN1 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT1 B4GALT7 B4GAT1 C1GALT1C1 CAD CANT1 CCDC115 CHST14 CHST3 CHST6 CHSY1 COG1 COG2 COG4 COG5 COG6 COG7 COG8 COPA COPB2 CSGALNACT1 DDOST DHDDS DOLK DPAGT1 DPM1 DPM2 DPM3 DSE EOGT EXT1 EXT2 EXTL3 FKRP FKTN FUK FUT8 G6PC3 GALNT3 GANAB GFPT1 GMPPA GMPPB GNE GNPTAB GORAB GOSR2 GPAA1 ISPD JAGN1 LARGE1 LFNG MAGT1 MAN1B1 MGAT2 MOGS MPDU1 MPI NANS NGLY1 NUS1 OGT PAPSS2 PGAP1 PGAP2 PGAP3 PGM1 PGM3 PIGA PIGB PIGC PIGG PIGL PIGM PIGN PIGO PIGP PIGQ PIGT PIGU PIGV PIGW PIGY PMM2 POFUT1 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKCSH RFT1 RPN2 RXYLT1 SAR1B SEC23A SEC23B SEC24D SEC63 SLC10A7 SLC26A2 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC35D1 SLC37A4 SLC39A8 SLC9A7 SRD5A3 SSR3 SSR4 ST3GAL3 ST3GAL5 STT3A STT3B TGDS TMEM165 TMEM199 TRAK1 TRAPPC11 TRAPPC12 TRAPPC2 TRAPPC6B TRAPPC9 TRIP11 TUSC3 VMA21 VPS13B XYLT1 XYLT2
Order test
Primary panel (154 genes)
Customized gene selection (0 included, 0 excluded)
A4GALT ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ARCN1 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT1 B4GALT7 B4GAT1 C1GALT1C1 CAD CANT1 CCDC115 CHST14 CHST3 CHST6 CHSY1 COG1 COG2 COG4 COG5 COG6 COG7 COG8 COPA COPB2 CSGALNACT1 DDOST DHDDS DOLK DPAGT1 DPM1 DPM2 DPM3 DSE EOGT EXT1 EXT2 EXTL3 FKRP FKTN FUK FUT8 G6PC3 GALNT3 GANAB GFPT1 GMPPA GMPPB GNE GNPTAB GORAB GOSR2 GPAA1 ISPD JAGN1 LARGE1 LFNG MAGT1 MAN1B1 MGAT2 MOGS MPDU1 MPI NANS NGLY1 NUS1 OGT PAPSS2 PGAP1 PGAP2 PGAP3 PGM1 PGM3 PIGA PIGB PIGC PIGG PIGL PIGM PIGN PIGO PIGP PIGQ PIGT PIGU PIGV PIGW PIGY PMM2 POFUT1 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKCSH RFT1 RPN2 RXYLT1 SAR1B SEC23A SEC23B SEC24D SEC63 SLC10A7 SLC26A2 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC35D1 SLC37A4 SLC39A8 SLC9A7 SRD5A3 SSR3 SSR4 ST3GAL3 ST3GAL5 STT3A STT3B TGDS TMEM165 TMEM199 TRAK1 TRAPPC11 TRAPPC12 TRAPPC2 TRAPPC6B TRAPPC9 TRIP11 TUSC3 VMA21 VPS13B XYLT1 XYLT2
Clinical information
Disorders tested
- A4GALT-congenital disorder of glycosylation (A4GALT-CDG)
- ALG1-congenital disorder of glycosylation (ALG1-CDG, CDG-Ik)
- ALG11-congenital disorder of glycosylation (ALG11-CDG, CDG-Ip)
- ALG12-congenital disorder of glycosylation (ALG12-CDG, CDG-Ig)
- ALG13-congenital disorder of glycosylation (CDG-Is)
- Congenital myasthenic syndrome 15 (CMS15), ALG14-congenital disorder of glycosylation (ALG14-CDG)
- Congenital disorder of glycosylation, ALG2-CDG (CDG-Ii)
- ALG3-congenital disorder of glycosylation (CDG-Id)
- ALG6-congenital disorder of glycosylation (CDG-Ic)
- ALG8-congenital disorder of glycosylation (ALG8-CDG, CDG-Ih)
- ALG9-congenital disorder of glycosylation (ALG9-CDG, CDG-IL)
- Rhizomelic short stature with microcephaly, micrognathia and developmental delay, ARCN1-congenital disorder of glycosylation (ARCN1-CDG)
- ATP6AP1-congenital disorder of glycosylation (ATP6AP1 deficiency) (ATP6AP1-CDG)
- X-linked intellectual disability with epilepsy (MRXE), Glycosylation disorder with immunodeficiency, liver disease, psychomotor impairment and cutis laxa (GILPC, ATP6AP2-CDG)
- ATP6V0A2-congenital disorder of glycosylation (Cutis laxa type 2A) (ATP6V0A2-CDG, ARCL2A)
- Epileptic encephalopathy of childhood onset (EEOC), ATP6V1A-congenital disorder of glycosylation (Cutis laxa type 2D) (ATP6V1A-CDG, ARCL2D)
- ATP6V1E1-congenital disorder of glycosylation (Cutis laxa type 2C) (ATP6V1E1-CDG, ARCL2C)
- Muscular dystrophy-dystroglycanopathy type A11 (MDDGA11)
- Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1), Spondylodysplastic Ehlers-Danlos syndrome (spEDS), B3GALT6-congenital disorder of glycosylation (B3GALT6-CDG)
- Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects (JDSCD), B3GAT3-congenital disorder of glycosylation (B3GAT3-CDG)
- Peters-plus syndrome, B3GLCT-congenital disorder of glycosylation (B3GLCT-CDG)
- B4GALNT1-congenital disorder of glycosylation (Hereditary spastic paraplegia) (B4GALNT1-CDG, SPG26)
- B4GALT1-congenital disorder of glycosylation (B4GALT1-CDG, CDG-IId)
- Spondylodysplastic Ehlers-Danlos syndrome (EDS), B4GALT7-congenital disorder of glycosylation (B4GALT7-CDG)
- Muscular dystrophy-dystroglycanopathy type A13 (MDDGA13)
- Tn polyagglutination syndrome, Congenital disorder of glycosylation (CDG)
- Early infantile epileptic encephalopathy (EIEE), Autism spectrum disorder with abnormal glycosylation, Congenital heart disease with neurodevelopmental disability
- Desbuquois dysplasia, CANT1-congenital disorder of glycosylation (CANT1-CDG)
- CCDC115-congenital disorder of glycosylation (CCDC115-CDG, CDG2o)
- CHST14-congenital disorder of glycosylation (Musculocontractural type Ehlers-Danlos syndrome) (CHST14-CDG)
- Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD), CHST3-congenital disorder of glycosylation (CHST3-CDG)
- Macular corneal dystrophy
- Temtamy preaxial brachydactyly syndrome (TPBS), CHSY1-congenital disorders of glycosylation (CHSY1-CDG)
- COG1-congenital disorder of glycosylation (COG1-CDG, CDG-IIg)
- COG2-congenital disorder of glycosylation (COG2-CDG, CDG-IIq)
- COG4-congenital disorder of glycosylation (CDG-IIj), Saul-Wilson syndrome (SWILS)
- COG5-congenital disorder of glycosylation (COG5-CDG, CDG-IIi)
- COG6-congenital disorder of glycosylation (COG6-CDG, CDG-IIL)
- COG7-congenital disorder of glycosylation (CDG-IIe)
- COG8-congenital disorder of glycosylation (COG8-CDG, CDG-IIh)
- Autoimmune interstitial lung, joint, and kidney disease (AILJK), COPA-congenital disorders of glycosylation (COPA-CDG)
- Congenital disorders of glycosylation (COPB2-CDG)
- CSGALNACT1-related skeletal dysplasia, Congenital disorders of glycosylation (CSGALNACT1-CDG)
- DDOST-congenital disorder of glycosylation (CDG-Ir)
- Retinitis pigmentosa (RP), DHDDS-related developmental and epileptic encephalopathy syndrome, DHDDS-congenital disorder of glycosylation (CDG-Ibb)
- DOLK-congenital disorder of glycosylation (CDG-1m)
- Congenital myasthenic syndrome 13 (CMS13), DPAGT1-congenital disorder of glycosylation (CDG-Ij)
- DPM1-congenital disorder of glycosylation (DPM1-CDG, CDG-Ie)
- DPM2-congenital disorder of glycosylation (DPM2-CDG, CDG-Iu)
- DPM3-congenital disorder of glycosylation (DPM1-CDG, CDG-Io)
- Ehlers-Danlos syndrome, musculocontractural type 2 (EDS-MC2),
Congenital disorders of glycosylation (DSE-CDG) - Adams-Oliver syndrome (AOS), Congenital disorders of glycosylation (EOGT-CDG)
- Hereditary multiple osteochondromas (HMO); Hereditary multiple exostosis, Congenital disorder of glycosylation (EXT1-CDG and EXT2-CDG)
- EXTL3 deficiency
- Muscular dystrophy-dystroglycanopathy type A5, type B5 and type C5 (MDDGA5, MDDGB5, MDDGC5)
- Muscular dystrophy-dystroglycanopathy type A4 (Fukuyama congenital muscular dystrophy) (MDDGA4), muscular dystrophy-dystroglycanopathy type B4, and type C4 (MDDGB4, MDDGC4)
- Congenital disorder of glycosylation with defective fucosylation
- FUT8-congenital disorder of glycosylation (FUT8-CDG)
- G6PC3-congenital disorder of glycosylation (Severe congenital neutropenia) (G6PC3-CDG, SCN)
- Hyperphosphatemic familial tumoral calcinosis (HFTC), Congenital disorders of glycosylation (GALNT3-CDG)
- Polycystic kidney disease (PKD), Congenital disorders of glycosylation (GANAB-CDG)
- GFPT1-congenital disorder of glycosylation (Congenital myasthenic syndrome 12) (GFPT1-CDG, CMS12)
- GMPPA-congenital disorder of glycosylation (Alacrima, achalasia and intellectual disability syndrome) (GMPPA-CDG, AAID)
- Muscular dystrophy-dystroglycanopathy type A14, type B14, type C14 (MDDGA14, MDDGB14, MDDGC14), Congenital myasthenic syndrome (CMS)
- GNE-related myopathy, Sialuria
- Mucolipidosis type II (I-cell disease, Pacman dysplasia) (ML II), Mucolipidosis type III (pseudo-Hurler polydystrophy) (ML III), Congenital disorders of glycosylation (GNPTAB-CDG)
- Geroderma osteodysplastica, Congenital disorders of glycosylation (GORAB-CDG)
- Myoclonic epilepsy, GOSR2-congenital disorder of glycosylation (GOSR2-CDG)
- GPAA1-congenital disorder of glycosylation (GPAA1-CDG)
- Muscular dystrophy-dystroglycanopathy type A7 and type C7 (MDDGA7, MDDGC7)
- Severe congenital neutropenia (SCN) due to JAGN1 deficiency, Congenital disorders of glycosylation (JAGN1-CDG)
- Muscular dystrophy-dystroglycanopathy type A6 and type B6 (MDDGA6, MDDGB6)
- Spondylocostal dysostosis, Congenital disorders of glycosylation (LFNG-CDG)
- Immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN); Congenital disorders of glycosylation (MAGT1-CDG)
- MAN1B1-congenital disorder of glycosylation (MAN1B1-CDG)
- MGAT2-congenital disorder of glycosylation (MGAT2-CDG, CDG-IIa)
- MOGS-congenital disorder of glycosylation (MOGS-CDG, CDG-IIb)
- MPDU1-congenital disorder of glycosylation (MPDU1-CDG, CDG-If)
- MPI-Congenital disorder of glycosylation (CDG-Ib)
- NANS-congenital disorder of glycosylation (NANS-CDG) (Spondyloepimetaphyseal dysplasia syndrome)
- NGLY1-congenital disorder of glycosylation (CDG-1V)
- Early infantile epileptic encephalopathy (EIEE), NUS1-congenital disorder of glycosylation (NUS1-CDG, CDG-Iaa)
- X-linked intellectual disability (XLID), Neurodevelopmental seizure condition, Congenital disorders of glycosylation (OGT-CDG)
- Brachyolmia, Congenital disorders of glycosylation (PAPSS2-CDG)
- PGAP1-related intellectual disability, PGAP1-congenital disorders of glycosylation (PGAP1-CDG)
- PGAP2-congenital disorder of glycosylation (PGAP2-CDG)
- PGAP3-congenital disorder of glycosylation (PGAP3-CDG)
- PGM1-congenital disorder of glycosylation (CDG-1t)
- PGM3-congenital disorder of glycosylation (PGM3-CDG)
- PIGA-congenital disorder of glycosylation (PIGA-CDG)
- PIGB-congenital disorder of glycosylation (PIGB-CDG) (Early infantile epileptic encephalopathy 80)
- PIGC-congenital disorder of glycosylation (PIGC-CDG) (Glycosylphosphatidylinositol biosynthesis defect)
- PIGG-congenital disorder of glycosylation (PIGG-CDG)
- PIGL-congenital disorder of glycosylation (PIGL-CDG) (CHIME syndrome)
- PIGN-congenital disorder of glycosylation (PIGN-CDG) (Multiple congenital anomalies-hypotonia-seizures syndrome)
- PIGO-congenital disorder of glycosylation (PIGO-CDG) (Hyperphosphatasia with intellectual disability syndrome)
- PIGP-congenital disorder of glycosylation (PIGP-CDG) (Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy)
- PIGQ-congenital disorder of glycosylation (PIGQ-CDG) (Early infantile epileptic encephalopathy)
- PIGT-congenital disorder of glycosylation (PIGT-CDG) (Glycosylphosphatidylinositol biosynthesis defect 7)
- PIGU-congenital disorder of glycosylation (PIGU-CDG) (Glycosylphosphatidylinositol biosynthesis defect 21)
- PIGV-congenital disorder of glycosylation (PIGV-CDG) (Hyperphosphatasia with intellectual disability syndrome, Mabry syndrome)
- PIGW-congenital disorder of glycosylation (PIGW-CDG) (Glycosylphosphatidylinositol biosynthesis defect 11, Hyperphosphatasia with intellectual disability syndrome 5)
- Glycosylphosphatidylinositol biosynthesis defect (PIGM-CDG)
- PMM2-congenital disorder of glycosylation (CDG-Ia)
- Dowling-Degos disease 2 (DDD2), POFUT1-congenital disorder of glycosylation (POFUT1-CDG)
- Dowling-Degos disease (DDD), Limb-girdle muscular dystrophy type R21 (LGMDR21)
- Muscular dystrophy-dystroglycanopathy type A3, type B3, type C3 (MDDGA3, MDDGB3, MDDGC3)
- Muscular dystrophy-dystroglycanopathy type A8 and type C8 (MDDGA8. MDDGC8)
- Muscular dystrophy-dystroglycanopathy type A12, type C12 (MDDGA12, MDDGC12)
- Muscular dystrophy-dystroglycanopathy type A1, type B1, type C1 (MDDGA1, MDDGB1, MDDGC1)
- Muscular dystrophy-dystroglycanopathy type A2, type B2, type C2 (MDDGA2, MDDGB2, MDDGC2)
- Polycystic liver disease (PCLD), Congenital disorders of glycosylation (PRKCSH-CDG)
- RFT1-congenital disorder of glycosylation (RFT1-CDG, CDG-In)
- RPN2-congenital disorder of glycosylation (RPN2-CDG)
- Muscular dystrophy-dystroglycanopathy type A10 (MDDGA10)
- Chylomicron retention disease (CMRD), Congenital disorders of glycosylation (SAR1B-CDG)
- Craniolenticulosutural dysplasia (CLSD), Congenital disorders of glycosylation (SEC23A-CDG)
- SEC23B-congenital disorder of glycosylation (SEC23B-CDG, CDAII) (Congenital dyserythropoietic anemia, type II )
- Cole-Carpenter syndrome, Congenital disorders of glycosylation (SEC24D-CDG)
- Polycystic liver disease 2 (PCLD2), Congenital disorders of glycosylation (SEC63-CDG)
- SLC10A7-congenital disorder of glycosylation (SLC10A7-CDG) (Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis)
- SLC26A2-related conditions:
- Achondrogenesis, type IB (ACG1B)
- Atelosteogenesis type 2 (AO2)
- Diastrophic dysplasia (DTD)
- Multiple epiphyseal dysplasia 4 (EDM4)
- SLC35A1-congenital disorder of glycosylation (SLC35A1-CDG, CDG-IIf)
- Congenital disorder of glycosylation (SLC35A2-CDG, CDG-IIm)
- SLC35A3-congenital disorder of glycosylation (SLC35A3-CDG)
- SLC35C1-congenital disorder of glycosylation (SLC35C1-CDG, CDG-IIc) (Leukocyte adhesion deficiency type II)
- Schneckenbecken dysplasia (SBD), Congenital disorders of glycosylation (SLC35D1-CDG)
- Glycogen storage disease Ib (GSD Ib)
- SLC39A8-congenital disorder of glycosylation (SLC39A8-CDG, CDG-IIn)
- Congenital disorder of glycosylation (SLC9A7-CDG) (SLC9A7-related X-linked intellectual disability)
- SRD5A3-congenital disorder of glycosylation (CDG-Iq) (Kahrizi syndrome)
- Congenital disorders of glycosylation (SSR3-CDG)
- SSR4-Congenital Disorder of Glycosylation (CDG type 1y)
- Developmental and epileptic encephalopathy, Early infantile epileptic encephalopathy, Congenital disorders of glycosylation (ST3GAL3-CDG)
- ST3GAL5-congenital disorder of glycosylation (ST3GAL5-CDG) (GM3 synthase deficiency)
- STT3A-congenital disorder of glycosylation (CDG-Iw)
- STT3B-congenital disorder of glycosylation (STT3-CDG, CDG-Ix)
- Catel-Manzke syndrome, Congenital disorders of glycosylation (TGDS-CDG)
- Congenital disorder of glycosylation (CDG-IIk)
- TMEM199-congenital disorder of glycosylation (TMEM199-CDG, CDG-IIp)
- Early infantile epileptic encephalopathy (EIEE), Congenital disorders of glycosylation (TRAK1-CDG)
- TRAPC11-congenital disorder of glycosylation (TRAPC11-CDG) (Limb-girdle muscular dystrophy type 2S)
- Progressive encephalopathy with brain atrophy and spasticity (PEBAS), Congenital disorders of glycosylation (TRAPPC12-CDG)
- Spondyloepiphyseal dysplasia tarda (SEDT), Congenital disorders of glycosylation (TRAPPC2-CDG)
- Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (NEDMEBA); Congenital disorders of glycosylation (TRAPPC6B-CDG)
- TRAPPC9-related intellectual disability, Congenital disorders of glycosylation (TRAPPC9-CDG)
- Achondrogenesis Type 1A, Odontochondrodysplasia (ODCD), Congenital disorders of glycosylation (TRIP11-CDG)
- TUSC3-congenital disorder of glycosylation (TUSC3-CDG)
- X-linked myopathy with excessive autophagy, Congenital disorders of glycosylation (VMA21-CDG)
- Cohen syndrome, Congenital disorders of glycosylation (VPS13B-CDG)
- Desbuquois dysplasia type 2, Baratela-Scott syndrome (BSS), Congenital disorders of glycosylation (XYLT1-CDG)
- Spondyloocular syndrome, Congenital disorders of glycosylation (XYLT2-CDG)
Clinical description
To view the complete clinical description of this panel, click here.
Inheritance
Most CDGs exhibit an autosomal recessive inheritance pattern; however, a small number of CDGs follow an X-linked inheritance pattern.
Assay
Assay and technical information
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.
| Gene | Transcript reference | Sequencing analysis | Deletion/Duplication analysis |
|---|---|---|---|
| A4GALT | NM_017436.5 | ||
| ALG1 | NM_019109.4 | ||
| ALG11 | NM_001004127.2 | ||
| ALG12 | NM_024105.3 | ||
| ALG13 | NM_001099922.2 | ||
| ALG14 | NM_144988.3 | ||
| ALG2 | NM_033087.3 | ||
| ALG3 | NM_005787.5 | ||
| ALG6 | NM_013339.3 | ||
| ALG8 | NM_024079.4 | ||
| ALG9 | NM_024740.2 | ||
| ARCN1 | NM_001655.4 | ||
| ATP6AP1 | NM_001183.5 | ||
| ATP6AP2 | NM_005765.2 | ||
| ATP6V0A2 | NM_012463.3 | ||
| ATP6V1A | NM_001690.3 | ||
| ATP6V1E1 | NM_001696.3 | ||
| B3GALNT2 | NM_152490.4 | ||
| B3GALT6 | NM_080605.3 | ||
| B3GAT3 | NM_012200.3 | ||
| B3GLCT | NM_194318.3 | ||
| B4GALNT1 | NM_001478.4 | ||
| B4GALT1 | NM_001497.3 | ||
| B4GALT7 | NM_007255.2 | ||
| B4GAT1 | NM_006876.2 | ||
| C1GALT1C1 | NM_001011551.2 | ||
| CAD | NM_004341.4 | ||
| CANT1 | NM_138793.3 | ||
| CCDC115 | NM_032357.3 | ||
| CHST14 | NM_130468.3 | ||
| CHST3 | NM_004273.4 | ||
| CHST6 | NM_021615.4 | ||
| CHSY1 | NM_014918.4 | ||
| COG1 | NM_018714.2 | ||
| COG2 | NM_007357.2 | ||
| COG4 | NM_015386.2 | ||
| COG5 | NM_006348.3 | ||
| COG6 | NM_020751.2 | ||
| COG7 | NM_153603.3 | ||
| COG8 | NM_032382.4 | ||
| COPA | NM_004371.3 | ||
| COPB2 | NM_004766.2 | ||
| CSGALNACT1 | NM_001130518.1 | ||
| DDOST | NM_005216.4 | ||
| DHDDS | NM_024887.3 | ||
| DOLK | NM_014908.3 | ||
| DPAGT1 | NM_001382.3 | ||
| DPM1 | NM_003859.1 | ||
| DPM2 | NM_003863.3 | ||
| DPM3 | NM_153741.1 | ||
| DSE | NM_013352.3 | ||
| EOGT | NM_173654.2 | ||
| EXT1 | NM_000127.2 | ||
| EXT2 | NM_207122.1 | ||
| EXTL3 | NM_001440.3 | ||
| FKRP | NM_024301.4 | ||
| FKTN* | NM_001079802.1 | ||
| FUK | NM_145059.2 | ||
| FUT8 | NM_178155.2 | ||
| G6PC3 | NM_138387.3 | ||
| GALNT3 | NM_004482.3 | ||
| GANAB | NM_198335.3 | ||
| GFPT1 | NM_001244710.1 | ||
| GMPPA | NM_205847.2 | ||
| GMPPB | NM_021971.2 | ||
| GNE | NM_001128227.2 | ||
| GNPTAB | NM_024312.4 | ||
| GORAB | NM_152281.2 | ||
| GOSR2 | NM_004287.3 | ||
| GPAA1 | NM_003801.3 | ||
| ISPD | NM_001101426.3 | ||
| JAGN1 | NM_032492.3 | ||
| LARGE1 | NM_004737.4 | ||
| LFNG | NM_001040167.1 | ||
| MAGT1 | NM_032121.5 | ||
| MAN1B1 | NM_016219.4 | ||
| MGAT2 | NM_002408.3 | ||
| MOGS | NM_006302.2 | ||
| MPDU1 | NM_004870.3 | ||
| MPI | NM_002435.2 | ||
| NANS | NM_018946.3 | ||
| NGLY1 | NM_018297.3 | ||
| NUS1 | NM_138459.3 | ||
| OGT | NM_181672.2 | ||
| PAPSS2 | NM_001015880.1 | ||
| PGAP1 | NM_024989.3 | ||
| PGAP2 | NM_001256240.1 | ||
| PGAP3 | NM_033419.4 | ||
| PGM1* | NM_002633.2 | ||
| PGM3 | NM_001199917.1 | ||
| PIGA | NM_002641.3 | ||
| PIGB* | NM_004855.4 | ||
| PIGC | NM_002642.3 | ||
| PIGG | NM_001127178.2 | ||
| PIGL | NM_004278.3 | ||
| PIGM | NM_145167.2 | ||
| PIGN | NM_176787.4 | ||
| PIGO | NM_032634.3 | ||
| PIGP | NM_153681.2 | ||
| PIGQ | NM_004204.3 | ||
| PIGT | NM_015937.5 | ||
| PIGU | NM_080476.4 | ||
| PIGV | NM_017837.3 | ||
| PIGW | NM_178517.3 | ||
| PIGY | NM_001042616.2 | ||
| PMM2 | NM_000303.2 | ||
| POFUT1 | NM_015352.1 | ||
| POGLUT1 | NM_152305.2 | ||
| POMGNT1 | NM_017739.3 | ||
| POMGNT2 | NM_032806.5 | ||
| POMK | NM_032237.4 | ||
| POMT1 | NM_007171.3 | ||
| POMT2 | NM_013382.5 | ||
| PRKCSH | NM_002743.3 | ||
| RFT1 | NM_052859.3 | ||
| RPN2 | NM_002951.4 | ||
| RXYLT1 | NM_014254.2 | ||
| SAR1B | NM_001033503.2 | ||
| SEC23A | NM_006364.3 | ||
| SEC23B | NM_006363.4 | ||
| SEC24D | NM_014822.3 | ||
| SEC63 | NM_007214.4 | ||
| SLC10A7 | NM_001300842.2 | ||
| SLC26A2* | NM_000112.3 | ||
| SLC35A1 | NM_006416.4 | ||
| SLC35A2 | NM_001042498.2 | ||
| SLC35A3 | NM_012243.2 | ||
| SLC35C1 | NM_018389.4 | ||
| SLC35D1 | NM_015139.2 | ||
| SLC37A4 | NM_001164277.1 | ||
| SLC39A8 | NM_022154.5 | ||
| SLC9A7 | NM_001257291.1 | ||
| SRD5A3 | NM_024592.4 | ||
| SSR3 | NM_001308197.1 | ||
| SSR4 | NM_001204526.1 | ||
| ST3GAL3 | NM_006279.3 | ||
| ST3GAL5 | NM_003896.3 | ||
| STT3A | NM_001278503.1 | ||
| STT3B | NM_178862.2 | ||
| TGDS | NM_014305.3 | ||
| TMEM165 | NM_018475.4 | ||
| TMEM199 | NM_152464.2 | ||
| TRAK1 | NM_001042646.2 | ||
| TRAPPC11 | NM_021942.5 | ||
| TRAPPC12 | NM_001321102.1 | ||
| TRAPPC2 | NM_001011658.3 | ||
| TRAPPC6B | NM_001079537.1 | ||
| TRAPPC9 | NM_031466.7 | ||
| TRIP11 | NM_004239.4 | ||
| TUSC3 | NM_006765.3 | ||
| VMA21 | NM_001017980.3 | ||
| VPS13B | NM_017890.4 | ||
| XYLT1 | NM_022166.3 | ||
| XYLT2 | NM_022167.3 |
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T (also known as NM_001079802.1:c.648-1243G>T) and the ~3 kb retrotransposon insertion in the 3' UTR at position NM_001079802‚Äã.1:c.*4392_*4393.
PGM1: Deletion/duplication analysis is not offered for exon 11.
PIGB: Deletion/duplication analysis is not offered for exon 9.
SLC26A2: Analysis includes the intronic variant NM_000112.3:c.-26+2T>C.
