Cerebral Palsy
Gene: POLR2AEnsemblGeneIds (GRCh38): ENSG00000181222
EnsemblGeneIds (GRCh37): ENSG00000181222
OMIM: 180660, Gene2Phenotype
POLR2A is in 3 panels
1 review
Clare van Eyk (University of Adelaide)
Single case with de novo LP variant in POLR2A, diagnosed with hypotonic-ataxic cerebral palsy with unclear cause (PMID: 38168508).
Sources: LiteratureCreated: 26 Jun 2024, 4:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM#618603
Publications
- PMID: 38168508
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM#618603
- OMIM
- 180660
- Clinvar variants
- Variants in POLR2A
- Penetrance
- None
- Publications
-
- PMID: 38168508
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: polr2a has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: polr2a has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: POLR2A was added gene: POLR2A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR2A were set to PMID: 38168508 Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM#618603 Review for gene: POLR2A was set to RED