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  3. CCDC174
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Intellectual disability

Gene: CCDC174

Red List (low evidence)
CCDC174 (coiled-coil domain containing 174)
EnsemblGeneIds (GRCh38): ENSG00000154781
EnsemblGeneIds (GRCh37): ENSG00000154781
OMIM: 616735, Gene2Phenotype
CCDC174 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Red as only one founder variant reported to-date in a single publication - currently no evidence that other variants in this gene are disease-causing.

Added 'founder-effect' tag
Created: 3 Sep 2020, 4:29 p.m. | Last Modified: 3 Sep 2020, 4:29 p.m.
Panel Version: 3.283
Created: 3 Sep 2020, 4:29 p.m.
Last Modified: 3 Sep 2020, 4:29 p.m.
Panel version: 3.283

Konstantinos Varvagiannis (Other)

I don't know

Biallelic pathogenic CCDC174 variants cause Hypotonia, infantile, with psychomotor retardation - IHPMR (MIM 616816).

Volodarsky et al [2015 - PMID: 26358778] describe 6 children from 2 unrelated families with - among others - severe hypotonia, psychomotor delay and abducens nerve palsy. All affected subjects were homozygous for a stoploss variant. Evidence from functional studies/animal model is provided supporting the role of the gene in this phenotype.

Overall this gene can be considered for inclusion in the ID panel with amber rating (2 families, single founder variant, consistent phenotype, supportive studies) pending further reports.
Sources: Literature
Created: 13 Jul 2020, 6:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816

Publications

Mode of pathogenicity
Other

Created: 13 Jul 2020, 6:34 p.m.

Panel version: 3.170

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816
Tags
founder-effect
OMIM
616735
Clinvar variants
Variants in CCDC174
Penetrance
Complete
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

3 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ccdc174 has been classified as Red List (Low Evidence).

3 Sep 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag founder-effect tag was added to gene: CCDC174.

13 Jul 2020, Gel status: 0

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

Konstantinos Varvagiannis (Other)

gene: CCDC174 was added gene: CCDC174 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CCDC174 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC174 were set to 26358778 Phenotypes for gene: CCDC174 were set to Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816 Penetrance for gene: CCDC174 were set to Complete Mode of pathogenicity for gene: CCDC174 was set to Other Review for gene: CCDC174 was set to AMBER