WFS1

wolframin ER transmembrane glycoprotein
OMIM: 606201, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels
No list WFS1 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11

review Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wolfram syndrome, 222300
  • Deafness, autosomal dominant 6/14/38, 600965
  • Wolfram-like syndrome, autosomal dominant, 614296
  • {Diabetes mellitus, noninsulin-dependent, association with}, 125853
Tags
  • curated_removed
Red WFS1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red WFS1 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sporadic Meniere disease
Tags
  • watchlist
Red WFS1 in Monogenic nephrogenic diabetes insipidus


Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Wolfram syndrome-1
  • Wolfram syndrome, central/neurogenic diabetes insipidus only
Green WFS1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wolfram syndrome, OMIM:222300
  • Deafness, autosomal dominant 6/14/38, OMIM:600965
  • Wolfram-like syndrome, autosomal dominant, OMIM:614296
  • {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853
  • ?Cataract 41, OMIM:116400
  • diabetes insipidus or optic atrophy
Green WFS1 in Ataxia and cerebellar anomalies - narrow panel


Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Wolfram syndrome 1, OMIM:222300
    Green WFS1 in Neonatal diabetes

    Level 3: Disorders of unusual phenotypes
    Level 2: Endocrine disorders
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Wolfram-like syndrome, autosomal dominant, OMIM:614296
    Green WFS1 in Bilateral congenital or childhood onset cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • ?Cataract 41, 116400
    Green WFS1 in Familial diabetes

    Level 3: Disorders of unusual phenotypes
    Level 2: Endocrine disorders
    Version 1.67

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Wolfram syndrome, OMIM:222300
    Green WFS1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Wolfram syndrome 1, 222300
    Green WFS1 in Monogenic diabetes


    Version 2.57
    Latest signed off version: v2.2 (25 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Wolfram-like syndrome, autosomal dominant, OMIM:614296
    • Wolfram syndrome 1, OMIM:222300
    • {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853
    Green WFS1 in Optic neuropathy

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • Expert Review Green
    • Expert
    Phenotypes
    • Wolfram syndrome 1, OMIM:222300
    Red WFS1 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Wolfram syndrome 1, 222300
    Green WFS1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Wolfram syndrome 1, OMIM:222300
    Green WFS1 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    • NHS GMS
    Phenotypes
    • Wolfram syndrome 1, OMIM:222300
    • Wolfram-like syndrome, autosomal dominant, OMIM:614296
    • Diabetes mellitus, noninsulin-dependent, association with, OMIM:125853
    Red WFS1 in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Deafness, autosomal dominant 6/14/38, 600965
    • Wolfram-like syndrome, autosomal dominant, 614296
    • Wolfram syndrome 1, 222300
    Green WFS1 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Wolfram-like syndrome, autosomal dominant, OMIM:614296
    • WOLFRAM SYNDROME 1, OMIM:222300
    Green WFS1 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • hearing loss
    • Wolfram syndrome, 222300
    • Nonsyndromic Hearing Loss, Dominant
    • Deafness, autosomal dominant 6/14/38, 600965
    • Wolfram-like syndrome, autosomal dominant, 614296
    Red WFS1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    Phenotypes
    • Wolfram syndrome 1, 222300
    • Wolfram-like syndrome, autosomal dominant, 614296
    Red WFS1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Wolfram syndrome 1, 222300
    • Deafness, autosomal dominant 6/14/38, 600965
    • Wolfram-like syndrome, autosomal dominant, 614296
    Green WFS1 in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Wolfram syndrome 1, 222300
    Red WFS1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    Red WFS1 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • ?Cataract 41, 116400
    • Wolfram-like syndrome, autosomal dominant, 614296
    • Wolfram syndrome, 222300
    • Eye Disorders
    Amber WFS1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Wolfram syndrome 1, 222300
    Green WFS1 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Wolfram-like syndrome, autosomal dominant, 614296
    • ?Cataract 41, 116400
    • Wolfram syndrome 1, 222300
    • Deafness, autosomal dominant 6/14/38, 600965