Ataxia - paediatric
Gene: POU4F1EnsemblGeneIds (GRCh38): ENSG00000152192
EnsemblGeneIds (GRCh37): ENSG00000152192
OMIM: 601632, Gene2Phenotype
POU4F1 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352
Bryony Thompson (Royal Melbourne Hospital)
4 unrelated probands presenting with paediatric onset ataxia, intention tremor, and hypotonia, with de novo loss of function variants, and supporting null mouse model.
Sources: LiteratureCreated: 4 Jun 2021, 12:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ataxia; intention tremor; hypotonia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Ataxia
- intention tremor
- hypotonia
- OMIM
- 601632
- Clinvar variants
- Variants in POU4F1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pou4f1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pou4f1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: POU4F1 was added gene: POU4F1 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: POU4F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POU4F1 were set to 33783914; 8876243 Phenotypes for gene: POU4F1 were set to Ataxia; intention tremor; hypotonia Review for gene: POU4F1 was set to GREEN