Optic Atrophy
Gene: WFS1EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant 61, MIM#4296
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Wolfram syndrome 1, autosomal recessive, MIM# 222300
- Wolfram-like syndrome, autosomal dominant, MIM#614296
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- None
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WFS1 were changed from Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant 61, MIM#Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296 to Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wfs1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant 61, MIM#Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WFS1 was added gene: WFS1 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WFS1 was set to Unknown