Cataract
Gene: WFS1
WFS1 (wolframin ER transmembrane glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cataracts reported in ~40% in a cohort of affected individuals.
Sources: Expert listCreated: 7 Jul 2020, 2:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 1, MIM# 222300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Wolfram syndrome 1, MIM# 222300
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Stroke
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Monogenic Diabetes
- Optic Atrophy
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Maturity-onset Diabetes of the Young
- Regression
- Deafness_Isolated
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Syndromic Retinopathy
- Ataxia - paediatric
History Filter Activity
7 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wfs1 has been classified as Green List (High Evidence).
7 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wfs1 has been classified as Green List (High Evidence).
7 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WFS1 was added gene: WFS1 was added to Cataract. Sources: Expert list Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 32350710 Phenotypes for gene: WFS1 were set to Wolfram syndrome 1, MIM# 222300 Review for gene: WFS1 was set to GREEN