Bilateral congenital or childhood onset cataracts
Gene: FAM126AEnsemblGeneIds (GRCh38): ENSG00000122591
EnsemblGeneIds (GRCh37): ENSG00000122591
OMIM: 610531, Gene2Phenotype
FAM126A is in 9 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Added 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
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelination and Congenital Cataract
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Hypomyelination and Congenital Cataract
- Leukodystrophy hypomyelinating 5
- Leukodystrophy hypomyelinating type 5
- Tags
- OMIM
- 610531
- Clinvar variants
- Variants in FAM126A
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag new-gene-name tag was added to gene: FAM126A.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FAM126A were set to Hypomyelination and Congenital Cataract; Leukodystrophy hypomyelinating 5; Leukodystrophy hypomyelinating type 5
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()FAM126A was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()FAM126A was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services