Bilateral congenital or childhood onset cataracts
Gene: FAM126AAdded new-gene-name tag, new approved HGNC gene symbol for FAM126A is HYCC1.Created: 21 Nov 2022, 3:13 p.m. | Last Modified: 21 Nov 2022, 3:13 p.m.
Panel Version: 2.111
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelination and Congenital Cataract
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for Leukodystrophy hypomyelinating type 5 (which includes a congenital cataract phenotype). Confirmed information on OMIM.Created: 25 Apr 2016, 9:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy hypomyelinating 5; Leukodystrophy hypomyelinating type 5
Tag new-gene-name tag was added to gene: FAM126A.
This gene has been classified as Green List (High Evidence).
Phenotypes for FAM126A were set to Hypomyelination and Congenital Cataract; Leukodystrophy hypomyelinating 5; Leukodystrophy hypomyelinating type 5
This gene has been classified as Green List (High Evidence).
FAM126A was added to Cataractspanel. Sources: UKGTN
FAM126A was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services