WFS1

wolframin ER transmembrane glycoprotein
OMIM: 606201, Gene2Phenotype

24 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 24 panels
No list WFS1 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.12	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 1.47	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 1.4	review	Unknown	Sources Expert Review Red Literature Phenotypes Sporadic Meniere disease Tags watchlist
Red WFS1 in Monogenic nephrogenic diabetes insipidus Version 1.12	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 1.68	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 Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) 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 2: Endocrinology Version 5.17 Latest signed off version: v5.0 (7 Aug 2024)	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 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	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 1.68	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 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Wolfram syndrome 1, 222300
Green WFS1 in Monogenic diabetes Level 2: Endocrinology Version 3.8 Latest signed off version: v3.0 (30 Apr 2025)	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 2: Ophthalmology Version 5.48 Latest signed off version: v5.0 (30 Apr 2025)	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 Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 1.642	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 Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) 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 Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) 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 Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) 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 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	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 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Red WFS1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	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 Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH Expert Review Amber Phenotypes Wolfram syndrome 1, 222300

WFS1

24 panels

No list WFS1 in Multi-organ autoimmune diabetes

Sources

Phenotypes

Tags

Red WFS1 in Glaucoma (developmental)

Sources

Phenotypes

Red WFS1 in Familial Meniere Disease

Sources

Phenotypes

Tags

Red WFS1 in Monogenic nephrogenic diabetes insipidus

Sources

Phenotypes

Green WFS1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Sources

Phenotypes

Green WFS1 in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Green WFS1 in Neonatal diabetes

Sources

Phenotypes

Green WFS1 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green WFS1 in Familial diabetes

Sources

Phenotypes

Green WFS1 in Hereditary ataxia

Sources

Phenotypes

Green WFS1 in Monogenic diabetes

Sources

Phenotypes

Green WFS1 in Optic neuropathy

Sources

Phenotypes

Red WFS1 in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green WFS1 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green WFS1 in Likely inborn error of metabolism

Sources

Phenotypes

Red WFS1 in Possible mitochondrial disorder - nuclear genes

Sources

Phenotypes

Green WFS1 in DDG2P

Sources

Phenotypes

Green WFS1 in Monogenic hearing loss

Sources

Phenotypes

Red WFS1 in Intellectual disability

Sources

Phenotypes

Red WFS1 in Mitochondrial disorders

Sources

Phenotypes

Green WFS1 in Hereditary ataxia with onset in adulthood

Sources

Phenotypes

Red WFS1 in Retinal disorders

Sources

Phenotypes

Red WFS1 in Structural eye disease

Sources

Phenotypes

Amber WFS1 in Childhood onset dystonia, chorea or related movement disorder

Sources

Phenotypes