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  3. ZNHIT3
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Optic neuropathy

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 4 panels

1 review

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565

Publications

Created: 19 Mar 2019, 3:33 p.m.

Panel version: 1.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
Phenotypes
  • Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565
OMIM
604500
Clinvar variants
Variants in ZNHIT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ZNHIT3 were changed from to Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565

19 Mar 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ZNHIT3 were set to

19 Mar 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: ZNHIT3 was changed from to BIALLELIC, autosomal or pseudoautosomal

19 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: ZNHIT3 was added gene: ZNHIT3 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: ZNHIT3 was set to