Bilateral congenital or childhood onset cataracts
Gene: FYCO1EnsemblGeneIds (GRCh38): ENSG00000163820
EnsemblGeneIds (GRCh37): ENSG00000163820
OMIM: 607182, Gene2Phenotype
FYCO1 is in 5 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Cataract; Cataract 18, autosomal recessive, 610019
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 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2, and associated with Cataract 18, autosomal recessive in OMIM.
Created: 22 Apr 2016, 5:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cataract 18, autosomal recessive; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2,
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Congenital Cataract
- Cataract 18, autosomal recessive, 610019
- Cataract 18, autosomal recessive
- CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
- OMIM
- 607182
- Clinvar variants
- Variants in FYCO1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
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 FYCO1 were set to Congenital Cataract; Cataract 18, autosomal recessive, 610019; Cataract 18, autosomal recessive; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
Added New Source
GEL ()FYCO1 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()FYCO1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()FYCO1 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services