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  3. CISD2
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Likely inborn error of metabolism

Gene: CISD2

Green List (high evidence)
CISD2 (CDGSH iron sulfur domain 2)
EnsemblGeneIds (GRCh38): ENSG00000145354
EnsemblGeneIds (GRCh37): ENSG00000145354
OMIM: 611507, Gene2Phenotype
CISD2 is in 14 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene. At least 3 variants reported in unrelated cases, together with segration and functional studies.
Created: 12 Aug 2019, 1:46 p.m. | Last Modified: 12 Aug 2019, 1:46 p.m.
Panel Version: 1.90
Comment on phenotypes: Diabetes with additional phenotypes suggestive of a monogenic aetiology;Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Intellectual disability
Created: 12 Aug 2019, 1:41 p.m. | Last Modified: 12 Aug 2019, 1:41 p.m.
Panel Version: 1.88
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Created: 23 Jul 2019, 10:13 a.m.
Last Modified: 23 Jul 2019, 10:13 a.m.
Panel version: Imported from Mitochondrial disorders panel version 1.412

History Filter Activity

12 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CISD2 were set to 27604308; 17846994; 25056293; 25371195; 29237418

12 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CISD2 were set to 27604308

12 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CISD2 were changed from Diabetes with additional phenotypes suggestive of a monogenic aetiology; Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Intellectual disability to Wolfram syndrome 2 604928

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CISD2. Source London North GLH was added to CISD2.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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 Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CISD2 were set to 27604308 Phenotypes for gene: CISD2 were set to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Intellectual disability