Intellectual disability update Jan 2018
Gene: CMC4

CMC4 (C-X9-C motif containing 4)
EnsemblGeneIds (GRCh38): ENSG00000182712
EnsemblGeneIds (GRCh37): ENSG00000182712
CMC4 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Was candidate gene in Grozeva et al, 2015 (PMID: 26350204) which considered work by Glissen et al 2014 (PMID: 24896178).

No evidence of association with intellectual disability phenotype. No entry in OMIM, nothing reported in Gene2Phenotype and nothing in PubMed. Note overlap with MTCP1 locus.
Created: 28 Feb 2018, 4:04 p.m.

Created: 28 Feb 2018, 3:09 p.m.

Panel version: 0.184

Details

Sources

Expert Review Red

Clinvar variants

Variants in CMC4

Penetrance

None

Publications

Panels with this gene

Intellectual disability

History Filter Activity

28 Feb 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Feb 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for CMC4 were set to 26350204; 24896178

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CMC4 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red