WFS1

wolframin ER transmembrane glycoprotein
OMIM: 606201, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green WFS1 in Cataract Level 2: Ophthalmological disorders Version 0.375	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Wolfram syndrome 1, MIM# 222300
Green WFS1 in Mendeliome Version 1.3512	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ?Cataract 41 Deafness, autosomal dominant 6/14/38 Wolfram syndrome, autosomal recessive 1 Wolfram-like syndrome, autosomal dominant {Diabetes mellitus, noninsulin-dependent, association with}
Green WFS1 in Optic Atrophy Level 2: Ophthalmological disorders Version 1.54 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	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
Green WFS1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green WFS1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 6/14/38, MIM# 600965 Wolfram syndrome 1 222300 Wolfram-like syndrome, autosomal dominant, MIM# 614296
Amber WFS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Wolfram syndrome 1, MIM# 222300 Wolfram-like syndrome, autosomal dominant, MIM# 614296
Green WFS1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.60 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Wolfram syndrome 1, 222300
Red WFS1 in Maturity-onset Diabetes of the Young Level 2: Endocrine disorders Version 1.24	2 reviews	Unknown	Sources Expert Review Red Other Phenotypes maturity-onset diabetes of the young MONDO:0018911
Green WFS1 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.152 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green 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 0.234 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	Unknown	Sources RetNet Expert Review Green
Green WFS1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolfram syndrome, 222300 (3)
Red WFS1 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.28	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Diabetes mellitus AND insipidus with optic atrophy AND deafness
Green WFS1 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.82	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 6/14/38, MIM# 600965 Wolfram syndrome 1 222300 Wolfram-like syndrome, autosomal dominant, MIM# 614296
Green WFS1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Wolfram syndrome
Green WFS1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolfram syndrome 1 MIM#222300
Red WFS1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Wolfram syndrome MIM#222300
Green WFS1 in Transplant Co-Morbidity Level 2: Screening Version 0.20	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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