Severe microcephalyGene: UBA5
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, 3:13 p.m. | Last Modified: 29 Jul 2019, 3:30 p.m.
Panel Version: 1.58
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epileptic encephalopathy, early infantile, 44, 617132
Publications for gene: UBA5 were set to
Source NHS GMS was added to UBA5.
gene: UBA5 was added gene: UBA5 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 Review for gene: UBA5 was set to GREEN