Severe microcephaly

Gene: ZNHIT3

Red List (low evidence)

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

• 28335020

Red List (low evidence)

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 literature

Created: 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 list

Created: 29 Jul 2019, 3:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEHO syndrome, 260565; microcephaly