Severe microcephaly

Gene: ZNHIT3

Red List (low evidence)

ZNHIT3 (zinc finger HIT-type containing 3)
EnsemblGeneIds (GRCh38): ENSG00000273611
EnsemblGeneIds (GRCh37): ENSG00000108278
OMIM: 604500, Gene2Phenotype
ZNHIT3 is in 3 panels

2 reviews

Helen Brittain (Genomics England Curator)

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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
Phenotypes
  • PEHO syndrome, 260565
  • microcephaly
OMIM
604500
Clinvar variants
Variants in ZNHIT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ZNHIT3 were set to

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ZNHIT3.

29 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

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