Bilateral congenital or childhood onset cataracts
Gene: GJA1
Ocular phenotype is microphthalmia and/or microcorneaCreated: 14 Jun 2016, 8:27 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Oculodentodigital Dysplasia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Demoted to red due to expert review.Created: 14 Jun 2016, 12:31 p.m.
Is on the Manchester congenital cataracts gene panel. Confirmed DD gene for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA and HALLERMANN-STREIFF SYNDROME (include cataract as a phenotype).Created: 29 Apr 2016, 11:52 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were changed from Oculodentodigital Dysplasia to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
This gene has been classified as Red List (Low Evidence).
Phenotypes for GJA1 were set to Oculodentodigital Dysplasia
Publications for GJA1 were set to Paznekas et al (2009) Hum Mutat30:724-733
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for GJA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GJA1 was added to Cataractspanel. Sources: UKGTN