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  3. ZNHIT3
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Genetic Epilepsy

Gene: ZNHIT3

Green List (high evidence)
ZNHIT3 (zinc finger HIT-type containing 3)
EnsemblGeneIds (GRCh38): ENSG00000273611
EnsemblGeneIds (GRCh37): ENSG00000108278
OMIM: 604500, Gene2Phenotype
ZNHIT3 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model.
Sources: Expert Review
Created: 19 Oct 2021, 6:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEHO syndrome, MIM# 260565

Publications

Created: 19 Oct 2021, 6:45 a.m.

Panel version: 0.1364

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • PEHO syndrome, MIM# 260565
Tags
founder
OMIM
604500
Clinvar variants
Variants in ZNHIT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znhit3 has been classified as Green List (High Evidence).

19 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znhit3 has been classified as Green List (High Evidence).

19 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZNHIT3 was added gene: ZNHIT3 was added to Genetic Epilepsy. Sources: Expert Review founder tags were added to gene: ZNHIT3. Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNHIT3 were set to 28335020; 28335020; 31048081 Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565 Review for gene: ZNHIT3 was set to GREEN