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Mitochondrial disease

Gene: CISD2

Green List (high evidence)
CISD2 (CDGSH iron sulfur domain 2)
EnsemblGeneIds (GRCh38): ENSG00000145354
EnsemblGeneIds (GRCh37): ENSG00000145354
OMIM: 611507, Gene2Phenotype
CISD2 is in 11 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 3 families and a mouse model. Culture of patient-derived fibroblasts in glucose-free galactose medium revealed a respiratory chain defect in complexes I and II, and a trend towards decreased ATP levels.
Created: 26 Apr 2022, 4:02 a.m. | Last Modified: 26 Apr 2022, 4:02 a.m.
Panel Version: 0.13313

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wolfram syndrome 2 MIM#604928

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Apr 2022, 4:02 a.m.
Last Modified: 26 Apr 2022, 4:02 a.m.
Panel version: Imported from Mendeliome panel version 0.13313

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 families and a mouse model. Culture of patient-derived fibroblasts in glucose-free galactose medium revealed a respiratory chain defect in complexes I and II, and a trend towards decreased ATP levels.
Sources: NHS GMS
Created: 22 Mar 2020, 11:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wolfram syndrome 2 MIM#604928

Publications

Created: 22 Mar 2020, 11:48 p.m.

Panel version: 0.313

History Filter Activity

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cisd2 has been classified as Green List (High Evidence).

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cisd2 has been classified as Green List (High Evidence).

22 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CISD2 was added gene: CISD2 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CISD2 were set to 29237418; 28335035; 27459537; 26230298; 17846994 Phenotypes for gene: CISD2 were set to Wolfram syndrome 2 MIM#604928 Review for gene: CISD2 was set to GREEN