Lipodystrophy - childhood onset
Gene: CIDEC
Comment on list classification: There is one case with partial lipodystrophy and evidence from mouse models. This gene is already reported in OMIM, but not in Gene2Phenotype. Hence, this gene can only be rated amber with current evidence.Created: 7 Aug 2023, 11:03 a.m. | Last Modified: 7 Aug 2023, 11:03 a.m.
Panel Version: 4.23
This review was provided for this gene by the NHSE Genomic Medicine Service:
Biallelic loss of function mutation in CIDEC was found in a female proband with partial lipodystrophy, severe insulin resistance and its metabolic complications but not unaffected family members (PMID: 20049731). She exhibited multi-locular adipocytes consistent with deficiency of CIDEC which is necessary for proper lipid droplet fusion. Mice with knockout of CIDEC (genename Fsp27 in mice) exhibit multilocular lipids droplets and have reduced adipose tissue mass, insulin resistance, dyslipidaemia and hepatic steatosis when subject to energetic stress (PMID: 25565658), consistent with the phenotype of the affected proband. It has been endorsed as a cause of lipodystrophy by an international multi-society practice guideline (PMID: 27710244).Created: 2 Aug 2023, 11:41 a.m. | Last Modified: 2 Aug 2023, 11:41 a.m.
Panel Version: 4.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Lipodystrophy, familial partial, type 5, OMIM:615238
Publications
Comment when marking as ready: CIDEC was included in the gene list as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). CIDEC is a red gene in the Insulin resistance (including lipodystrophy) (Version 1.6) panel and only 1 variant has been reported when this gene was reviewed for that panel (2016). There has not been any new variants for this gene.Created: 7 Jan 2019, 11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one variants reportedCreated: 11 Aug 2016, 1:25 p.m.
Comment on publications: EMBO Molecular Medicine (2009) 1, 280-287Created: 11 Aug 2016, 1:22 p.m.
Phenotypes for gene: CIDEC were changed from Lipodystrophy, familial partial, type 5, 615238 to ?Lipodystrophy, familial partial, type 5, OMIM:615238
Gene: cidec has been classified as Amber List (Moderate Evidence).
Publications for gene: CIDEC were set to
Sarah Leigh: Comment on publications: EMBO
Gene: cidec has been classified as Red List (Low Evidence).
Gene: cidec has been classified as Red List (Low Evidence).
gene: CIDEC was added gene: CIDEC was added to Lipodystrophy - childhood onset. Sources: Expert list Mode of inheritance for gene: CIDEC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIDEC were set to Lipodystrophy, familial partial, type 5, 615238