ZNHIT3

zinc finger HIT-type containing 3
OMIM: 604500, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red ZNHIT3 in Optic neuropathy Level 2: Ophthalmology Version 5.54 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565
Red ZNHIT3 in Severe microcephaly Level 2: Neurology Version 8.41 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert list Phenotypes PEHO syndrome, 260565 microcephaly
Amber ZNHIT3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.184 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes PEHO syndrome, OMIM:260565 PEHO syndrome
Red ZNHIT3 in Primary lymphoedema Level 2: Cardiology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes PEHO syndrome, 260565 Tags founder-effect