Ataxia and cerebellar anomalies - narrow panel
Gene: POU4F1EnsemblGeneIds (GRCh38): ENSG00000152192
EnsemblGeneIds (GRCh37): ENSG00000152192
OMIM: 601632, Gene2Phenotype
POU4F1 is in 2 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to promote this gene to Green at the next GMS panel update - sufficient number of unrelated cases (>3), supported by an animal model (see details below)
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Webb et al. 2021 (PMID:33783914) identified four unrelated individuals with different de novo POU4F1 variants. All presented with ataxia, hypotonia, and intention tremor. 3/4 also had strabismus and a history of paroxysmal tonic upgaze. Pou4f1−/− mice are known to have uncoordinated movements consistent with the ataxia phenotype seen in this patient cohort.
POU4F1 is associated with a relevant phenotype in OMIM (Ataxia, intention tremor, and hypotonia syndrome, childhood-onset, MIM# 619352) but is not yet listed in G2P.Created: 22 Jun 2021, 11:06 a.m. | Last Modified: 22 Jun 2021, 11:06 a.m.
Panel Version: 2.210
Zornitza Stark (Australian Genomics)
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: 11 Jun 2021, 10:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Ataxia, intention tremor, and hypotonia syndrome, childhood-onset, OMIM:619352
- OMIM
- 601632
- Clinvar variants
- Variants in POU4F1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: POU4F1.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to POU4F1. Source NHS GMS was added to POU4F1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating tag was added to gene: POU4F1.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: pou4f1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: POU4F1 were changed from Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352 to Ataxia, intention tremor, and hypotonia syndrome, childhood-onset, OMIM:619352
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: POU4F1 was added gene: POU4F1 was added to Ataxia and cerebellar anomalies - narrow panel. 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 Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352 Review for gene: POU4F1 was set to GREEN gene: POU4F1 was marked as current diagnostic