Bilateral congenital or childhood onset cataracts
Gene: GJA8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataract-Microcornea Syndrome; Cataract 1, multiple types, 116200
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. Confirmed DD gene for CATARACT-MICROCORNEA SYNDROME and CATARACT ZONULAR PULVERULENT TYPE 1. Associated with Cataract 1, multiple types in OMIM.Created: 22 Apr 2016, 5:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CATARACT-MICROCORNEA SYNDROME; CATARACT ZONULAR PULVERULENT TYPE 1; Cataract 1, multiple types
This gene has been classified as Green List (High Evidence).
Phenotypes for GJA8 were set to Cataract-Microcornea Syndrome; Cataract 1, multiple types, 116200; CATARACT-MICROCORNEA SYNDROME; CATARACT ZONULAR PULVERULENT TYPE 1; Cataract 1, multiple types
GJA8 was added to Cataractspanel. Sources: UKGTN
GJA8 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
GJA8 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services