ZNHIT3

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red ZNHIT3 in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.0

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 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.78

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
Phenotypes
  • PEHO syndrome, 260565
  • microcephaly

Red ZNHIT3 in Primary lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • PEHO syndrome, 260565
Tags
  • founder-effect