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Recognized gene
WFS1
Normalized c.HGVS
c.*366_*369del, c.1052A>G, c.1079G>A, c.1123C>T, c.1124G>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala255Thr), p.(Ala569Thr), p.(Ala59Val), p.(Ala74Thr) and 45 more
Matching records
605
PM3-positive records
16
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| WFS1 |
NM_006005.3:c.1079G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2051C>T
context: Compound heterozygous candidate
|
39766859
Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.
Genes, 2024
|
Main article | |
| WFS1 |
NM_006005.3:c.2213C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
39363032
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.
Scientific reports, 2024
|
Supplementary material | |
| WFS1 |
NM_006005.3:c.401C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37277527
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.
Scientific reports, 2023
|
Main article | |
| WFS1 |
NM_006005.3:c.613G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with A559T
context: Compound heterozygous candidate
|
37277527
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.
Scientific reports, 2023
|
Main article | |
| WFS1 |
NM_006005.3:c.176C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
36973604
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Functional & integrative genomics, 2023
|
Supplementary material | |
| WFS1 |
NM_006005.3:c.1424C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.(W666*)
context: Compound heterozygous candidate
|
36098976
Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.
Investigative ophthalmology & visual science, 2022
|
Main article | |
| WFS1 |
NM_006005.3:c.2314C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.2171C > T; c.2194C > T; p.P724L; +1 more
context: Confirmed in trans
|
34404380
Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.
BMC endocrine disorders, 2021
|
Main article | |
| WFS1 |
NM_006005.3:c.2082G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.G1839A; p.W613X
context: Compound heterozygous candidate
|
33538814
Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection.
The Journal of clinical endocrinology and metabolism, 2021
|
Main article | |
| WFS1 |
NM_006005.3:c.997G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
32375679
Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.
BMC medical genetics, 2020
|
Main article | |
| WFS1 |
NM_006005.3:c.2108G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28432734
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Human mutation, 2017
|
Supplementary material | |
| WFS1 |
NM_006005.3:c.1552A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with 1295T>G; L432R
context: Compound heterozygous candidate
|
25211237
Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
PloS one, 2014
|
Main article | |
| WFS1 |
NM_006005.3:c.1364C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1045G>Ab; p.Gly349Serb
context: Compound heterozygous candidate
|
25133958
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
JAMA neurology, 2014
|
Main article | |
| WFS1 |
NM_006005.3:c.1366C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.728C>T; p.Ala243Val
context: Compound heterozygous candidate
|
25133958
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
JAMA neurology, 2014
|
Main article | |
| WFS1 |
NM_006005.3:c.1705G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.903C>G; p.Phe301Leu
context: Compound heterozygous candidate
|
25133958
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
JAMA neurology, 2014
|
Main article | |
| WFS1 |
NM_006005.3:c.1943G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with G695V; G695V
context: Compound heterozygous candidate
|
24227685
β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome.
Diabetes, 2014
|
Supplementary material | |
| WFS1 |
NM_006005.3:c.2385G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2390 A>T; p.D797V
context: Compound heterozygous candidate
|
21602428
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.
Diabetes care, 2011
|
Main article | |
| WFS1 |
NM_006005.3:c.1633G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37713394
Gene mutations as a non-invasive measure of adult cochlear implant performance: Variable outcomes in patients with select TMPRSS3 mutations.
PloS one, 2023
|
Main article | |
| WFS1 |
NM_006005.3:c.400G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37713394
Gene mutations as a non-invasive measure of adult cochlear implant performance: Variable outcomes in patients with select TMPRSS3 mutations.
PloS one, 2023
|
Main article | |
| WFS1 |
NM_006005.3:c.226G>A
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36418577
Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.
Diabetologia, 2023
|
Main article | |
| WFS1 |
NM_006005.3:c.2414G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
35938034
Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness.
Frontiers in genetics, 2022
|
Main article and supplement | |