Severe microcephalyGene: EOMES
As discussed with the GMS Neurology Specialist Test Group webex call 11thJuly 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
PMID 17353897 - autosomal recessive microcephaly syndrome in a family cosegregated with a homozygous balanced translocation between chromosomes 3p and 10q which was shown to silence EOMES.
Created: 18 Dec 2017, 1:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to EOMES.
Phenotypes for EOMES were set to microcephaly syndrome
EOMES was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum panel. Sources: Literature
EOMES was created by Ellen McDonagh