Lipodystrophy - childhood onset

Gene: CIDEC

Red List (low evidence)

CIDEC (cell death inducing DFFA like effector c)
EnsemblGeneIds (GRCh38): ENSG00000187288
EnsemblGeneIds (GRCh37): ENSG00000187288
OMIM: 612120, Gene2Phenotype
CIDEC is in 3 panels

4 reviews

Ivone Leong (Genomics England Curator)

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.

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one variants reported
Created: 11 Aug 2016, 1:25 p.m.
Comment on publications: EMBO Molecular Medicine (2009) 1, 280-287
Created: 11 Aug 2016, 1:22 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Lipodystrophy, familial partial, type 5, 615238
OMIM
612120
Clinvar variants
Variants in CIDEC
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Comment on publications: EMBO

8 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cidec has been classified as Red List (Low Evidence).

7 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cidec has been classified as Red List (Low Evidence).

4 Jan 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

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