CX46.6; Cx47; GJA12; HLD2; LMPH1C; PMLDAR; SPG44
The GJC2 gene is associated with autosomal recessive hereditary spastic paraplegia 44 (SPG44) (MedGen UID: 413042) and autosomal dominant hereditary primary lymphedema (MedGen UID: 462082).
Order this gene as a single gene test.
GJC2: Analysis includes the promoter variants NM_020435.3:c.-167A>G and NM_020435.3:c.-170A>G.
Invitae tests that include this gene:
GJC2 is a rare cause of hereditary spastic paraplegia, and the percentage of HSP attributed to pathogenic variants identified in GJC2 is unknown.
GJC2 encodes the gap-junction protein connexin 47. GJC2 is expressed in the nervous system and plays a role in myelin production.
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, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|
*GJC2: Analysis includes the promoter variants NM_020435.3:c.-167A>G and NM_020435.3:c.-170A>G.