Severe microcephaly
Gene: ZNHIT3
PMID:28335020 - Progressive microcephaly reported as part of the phenotype. Numerous clinical reports. Only one variant identified in a single population (Finnish). Provisionally rated Amber (or Red).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, 260565
Publications
Gene rated Red- 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, 3:16 p.m. | Last Modified: 27 Nov 2019, 3:16 p.m.
Panel Version: 1.78
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, 3:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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