Severe microcephaly
Gene: CCDC88A
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
Comment on list classification: Gene rated Amber- this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literatureCreated: 27 Nov 2019, 3:11 p.m. | Last Modified: 27 Nov 2019, 3:11 p.m.
Panel Version: 1.75
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 listCreated: 29 Jul 2019, 3:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEHO syndrome-like, 617507
Publications for gene: CCDC88A were set to
Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to CCDC88A.
Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507 to PEHO syndrome-like, 617507; microcephaly
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