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Intellectual disability - microarray and sequencing v5.313 CCDC32 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:618941, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Intellectual disability - microarray and sequencing v5.313 CCDC32 Achchuthan Shanmugasundram commented on gene: CCDC32
Intellectual disability - microarray and sequencing v4.61 CCDC32 Eleanor Williams Tag gene-checked tag was added to gene: CCDC32.
Intellectual disability - microarray and sequencing v4.53 CCDC32 Arina Puzriakova Tag watchlist was removed from gene: CCDC32.
Tag Q3_22_rating was removed from gene: CCDC32.
Intellectual disability - microarray and sequencing v4.53 CCDC32 Arina Puzriakova reviewed gene: CCDC32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability - microarray and sequencing v4.52 CCDC32 Arina Puzriakova Source NHS GMS was added to CCDC32.
Source Expert Review Green was added to CCDC32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.1693 CCDC32 Sarah Leigh Tag Q3_22_rating tag was added to gene: CCDC32.
Intellectual disability - microarray and sequencing v3.1693 CCDC32 Sarah Leigh edited their review of gene: CCDC32: Added comment: Associated with relevant phenotype in OMIM and as strong Gen2Phen gene for CCDC32-associated neurodevelopmental syndrome. At least three variants have been reported in three unrelated cases (PMIDS: 32307552 & 35451546), together with supportive functional studies.; Changed rating: GREEN
Intellectual disability - microarray and sequencing v3.1693 CCDC32 Sarah Leigh Classified gene: CCDC32 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.1693 CCDC32 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Intellectual disability - microarray and sequencing v3.1693 CCDC32 Sarah Leigh Gene: ccdc32 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.1692 CCDC32 Sarah Leigh Phenotypes for gene: CCDC32 were changed from global developmental delay to Cardiofacioneurodevelopmental syndrome, OMIM:619123; cardiofacioneurodevelopmental syndrome, MONDO:0030873
Intellectual disability - microarray and sequencing v3.1691 CCDC32 Sarah Leigh Publications for gene: CCDC32 were set to 32307552
Intellectual disability - microarray and sequencing v3.1561 CCDC32 Konstantinos Varvagiannis reviewed gene: CCDC32: Rating: AMBER; Mode of pathogenicity: None; Publications: 32307552, 35451546; Phenotypes: Cardiofacioneurodevelopmental syndrome (# 619123); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.177 CCDC32 Eleanor Williams Tag watchlist tag was added to gene: CCDC32.
Intellectual disability - microarray and sequencing v3.177 CCDC32 Eleanor Williams Classified gene: CCDC32 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.177 CCDC32 Eleanor Williams Added comment: Comment on list classification: Rating amber as 2 cases plus some limited functional evidence. Rating agreed with Genomics England clinical team.
Intellectual disability - microarray and sequencing v3.177 CCDC32 Eleanor Williams Gene: ccdc32 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.176 CCDC32 Eleanor Williams 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
Added comment: 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