Cataract
Gene: FYCO1EnsemblGeneIds (GRCh38): ENSG00000163820
EnsemblGeneIds (GRCh37): ENSG00000163820
OMIM: 607182, Gene2Phenotype
FYCO1 is in 5 panels
1 review
Teresa Zhao (Victorian Clinical Genetics Services)
Well reported gene-disease association. Multiple variants (missense, nonsense, frameshift and splice variants) reported.Created: 5 Jul 2021, 5:53 a.m. | Last Modified: 5 Jul 2021, 5:53 a.m.
Panel Version: 0.279
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cataract 18 (MIN#610019) AR
Publications
- PMID: 32355443
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cataract 18, MIM#610019
- OMIM
- 607182
- Clinvar variants
- Variants in FYCO1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fyco1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FYCO1 were changed from to Cataract 18, MIM#610019
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FYCO1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FYCO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FYCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FYCO1 was added gene: FYCO1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FYCO1 was set to Unknown