Monogenic Diabetes
Gene: CISD2EnsemblGeneIds (GRCh38): ENSG00000145354
EnsemblGeneIds (GRCh37): ENSG00000145354
OMIM: 611507, Gene2Phenotype
CISD2 is in 11 panels
1 review
Hali Van Niel (University of Melbourne)
>3 individuals with CISD2 change with Wolfram syndrome, diabetes mellitus hallmark of diseaseCreated: 2 May 2024, 12:32 a.m. | Last Modified: 2 May 2024, 12:32 a.m.
Panel Version: 0.58
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 2 MONDO:0011502
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Wolfram syndrome, MIM#2604928
- OMIM
- 611507
- Clinvar variants
- Variants in CISD2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cisd2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2604928 to Wolfram syndrome, MIM#2604928
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CISD2 were set to 25056293; 17846994
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CISD2 was added gene: CISD2 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CISD2 were set to 25056293; 17846994 Phenotypes for gene: CISD2 were set to Wolfram syndrome 2604928