Cerebral Palsy
Gene: POLA1EnsemblGeneIds (GRCh38): ENSG00000101868
EnsemblGeneIds (GRCh37): ENSG00000101868
OMIM: 312040, Gene2Phenotype
POLA1 is in 7 panels
1 review
Clare van Eyk (University of Adelaide)
3 males with hemizygous LOF variants reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Spasticity has been reported as a rare feature of VEODS.
Sources: LiteratureCreated: 26 Jun 2024, 2:09 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Van Esch-O'Driscoll syndrome, MIM#301030
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Van Esch-O'Driscoll syndrome, MIM#301030
- OMIM
- 312040
- Clinvar variants
- Variants in POLA1
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pola1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pola1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: POLA1 was added gene: POLA1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: POLA1 were set to PMID: 38693247 Phenotypes for gene: POLA1 were set to Van Esch-O'Driscoll syndrome, MIM#301030 Review for gene: POLA1 was set to AMBER