WFS1:Ensemblv115

wolframin ER transmembrane glycoprotein
OMIM: 606201, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green WFS1 in Cataract


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Wolfram syndrome 1, MIM# 222300

Green WFS1 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Wolfram syndrome 1, autosomal recessive, MIM# 222300
  • Wolfram-like syndrome, autosomal dominant, MIM#614296

Green WFS1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green WFS1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Expert Review Green
Phenotypes
  • Deafness, autosomal dominant 6/14/38, MIM# 600965
  • Wolfram syndrome 1 222300
  • Wolfram-like syndrome, autosomal dominant, MIM# 614296

Red WFS1 in Maturity-onset Diabetes of the Young


Level 2: Endocrine disorders
Version 2.0

2 reviews Unknown
Sources
  • Other
  • Expert Review Red
Phenotypes
  • maturity-onset diabetes of the young MONDO:0018911

Green WFS1 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 1.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wolfram-like syndrome, autosomal dominant, 614296
  • Wolfram syndrome, 222300
  • Deafness, autosomal dominant 6/14/38, 600965
  • ?Cataract 41,116400
  • {Diabetes mellitus, noninsulin-dependent, association with}, 125853
  • Deafness,autosomal dominant 6/14/38, 600965
  • {Diabetes mellitus, noninsulin-dependent,association with}
  • diabetes insipidus or optic atrophy

Green WFS1 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

2 reviews Unknown
Sources
  • Expert Review Green
  • RetNet

Green WFS1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Wolfram syndrome, 222300 (3)

Green WFS1 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Deafness, autosomal dominant 6/14/38, MIM# 600965
  • Wolfram syndrome 1 222300
  • Wolfram-like syndrome, autosomal dominant, MIM# 614296

Green WFS1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Wolfram syndrome 1 MIM#222300

Green WFS1 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • diabetes insipidus or optic atrophy
  • ?Cataract 41,116400
  • Wolfram syndrome, 222300
  • Deafness,autosomal dominant 6/14/38, 600965
  • {Diabetes mellitus, noninsulin-dependent, association with}, 125853
  • {Diabetes mellitus, noninsulin-dependent,association with}
  • Deafness, autosomal dominant 6/14/38, 600965
  • Wolfram-like syndrome, autosomal dominant, 614296