Severe microcephaly

Gene: CCDC88A

Red List (low evidence)

CCDC88A (coiled-coil domain containing 88A)
EnsemblGeneIds (GRCh38): ENSG00000115355
EnsemblGeneIds (GRCh37): ENSG00000115355
OMIM: 609736, Gene2Phenotype
CCDC88A is in 5 panels

2 reviews

Helen Brittain (Genomics England Curator)

I don't know

PMID:26917597 - 3 children, single family encephalopathy, seizures, progressive. microcephaly. Truncating variants. PMID:30392057 - consanguineous family, homozygous nonsense, phenotype of DD, epilepsy, optic atrophy, pedal oedema. Two families, progressive microcephaly outlined in one . Provisionally rated Amber.
Created: 10 Oct 2019, 10:30 a.m. | Last Modified: 10 Oct 2019, 10:30 a.m.
Panel Version: 1.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?PEHO syndrome-like, 617507

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green.
Sources: Expert list
Created: 29 Jul 2019, 3:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEHO syndrome-like, 617507

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
Phenotypes
  • PEHO syndrome-like, 617507
  • microcephaly
OMIM
609736
Clinvar variants
Variants in CCDC88A
Penetrance
None
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CCDC88A.

29 Jul 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507 to PEHO syndrome-like, 617507; microcephaly

29 Jul 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: CCDC88A was added gene: CCDC88A was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC88A were set to PEHO syndrome-like, 617507 Review for gene: CCDC88A was set to GREEN