Likely inborn error of metabolism - targeted testing not possible
Gene: CISD2
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 disabilityCreated: 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
Gene: cisd2 has been classified as Green List (High Evidence).
Publications for gene: CISD2 were set to 27604308; 17846994; 25056293; 25371195; 29237418
Publications for gene: CISD2 were set to 27604308
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
Source NHS GMS was added to CISD2. Source London North GLH was added to CISD2.
Sarah Leigh: Associated with relevant pheno
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