Monogenic diabetes
Gene: CISD2EnsemblGeneIds (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
- Phenotypes
-
- Wolfram syndrome 2, OMIM:604928
- OMIM
- 611507
- Clinvar variants
- Variants in CISD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Optic neuropathy
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2604928 to Wolfram syndrome 2, OMIM:604928
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Initial gene list and info col
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CISD2 were changed from 604928; Wolfram syndrome 2 to Wolfram syndrome 2604928
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CISD2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CISD2 was added gene: CISD2 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CISD2 were set to 17846994; 25056293 Phenotypes for gene: CISD2 were set to 604928; Wolfram syndrome 2