rs202029915
This variant is located in the SIX6 gene.
▶ClinVar annotation
Anophthalmia-microphthalmia syndrome; not provided; Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome;Anophthalmia/microphthalmia-esophageal atresia syndrome
View on ClinVar →▶Research that mentions this SNP (1)
▶Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzymeCase reportN=74Gabriela Chavarria-Soley et al.(2008)· Human Mutation
This NGS-based study analyzed 72 glaucoma-related genes in 61 patients with primary open-angle glaucoma (POAG) and found 9 rare variants in 16% of patients, including variants in CYP1B1 (p.Y81N, p.S28W), SIX6 (p.T212M), CARD10 (p.T436M, p.C984X), MFN1 (p.R534Q, p.E701X), OPTC (p.R298H), OPTN (p.Q518X), and WDR36 (p.E298N). Additionally, hypomorphic variants were identified in 8% of POAG patients, suggesting NGS is valuable for genetic assessment and early diagnosis.
About SIX6
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008]
View all SIX6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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