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Intellectual disability

Gene: CMC4

Red List (low evidence)

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

3 reviews

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.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Expert Review Red
Clinvar variants
Variants in CMC4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene CMC4 was set to ['26350204', '24896178']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CMC4 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CMC4 was created by ellenmcdonagh