Familial diabetes
Gene: CISD2
CISD2 (CDGSH iron sulfur domain 2)
EnsemblGeneIds (GRCh38): ENSG00000145354
EnsemblGeneIds (GRCh37): ENSG00000145354
OMIM: 611507, Gene2Phenotype
CISD2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000145354
EnsemblGeneIds (GRCh37): ENSG00000145354
OMIM: 611507, Gene2Phenotype
CISD2 is in 14 panels
1 review
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: CISD2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Wolfram syndrome.Created: 11 Jan 2019, 10:04 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Wolfram syndrome 2, 604928
- OMIM
- 611507
- Clinvar variants
- Variants in CISD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Optic neuropathy
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Familial diabetes
- DDG2P
- Neonatal diabetes
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Monogenic diabetes
History Filter Activity
1 Mar 2019, Gel status: 4
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, 604928 to Wolfram syndrome 2, 604928
1 Mar 2019, Gel status: 4
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2604928 to Wolfram syndrome 2, 604928
1 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CISD2 was added gene: CISD2 was added to Familial 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