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Intellectual disability

Gene: CCDC32

Amber List (moderate evidence)

CCDC32 (coiled-coil domain containing 32)
EnsemblGeneIds (GRCh38): ENSG00000128891
EnsemblGeneIds (GRCh37): ENSG00000128891
CCDC32 is in 3 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Rating amber as 2 cases plus some limited functional evidence. Rating agreed with Genomics England clinical team.
Created: 23 Jul 2020, 3:51 p.m. | Last Modified: 23 Jul 2020, 3:51 p.m.
Panel Version: 3.177
PMID: 32307552 - Harel et al 2020 - report 2 unrelated consanguineous families with probands with homozygous frameshift variants in CCDC32.  Parents are heterozygous. Phenotype is a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.  In one family the child had global developmental delay, in the other the child had moderately delayed motor and language development and hyperactivity.

Functional studies in zebrafish show that ccdc32 depletion impairs cilia formation and demonstrate a contribution of ccdc32 in craniofacial, brain and left/right axis development.
Sources: Literature
Created: 23 Jul 2020, 3:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
global developmental delay

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • global developmental delay
Tags
watchlist
Clinvar variants
Variants in CCDC32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2020, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: CCDC32.

23 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ccdc32 has been classified as Amber List (Moderate Evidence).

23 Jul 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: CCDC32 was added gene: CCDC32 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC32 were set to 32307552 Phenotypes for gene: CCDC32 were set to global developmental delay Review for gene: CCDC32 was set to AMBER