Severe microcephalyGene: CCDC88A
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
PEHO syndrome-like, 617507
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