Severe microcephalyGene: ZNHIT3
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, 3:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
PEHO syndrome, 260565; microcephaly
Publications for gene: ZNHIT3 were set to
Source NHS GMS was added to ZNHIT3.
gene: ZNHIT3 was added gene: ZNHIT3 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565; microcephaly Review for gene: ZNHIT3 was set to GREEN