Clefting
Gene: POLR2A
POLR2A (RNA polymerase II subunit A)
EnsemblGeneIds (GRCh38): ENSG00000181222
EnsemblGeneIds (GRCh37): ENSG00000181222
OMIM: 180660, Gene2Phenotype
POLR2A is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000181222
EnsemblGeneIds (GRCh37): ENSG00000181222
OMIM: 180660, Gene2Phenotype
POLR2A is in 4 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
This gene should be rated red as clefting has only been reported in a minor fraction of patients with monoallelic variants in POLR2A.
PMID:31353023 - 16 individuals were identified with heterozygous variants in POLR2A, of which only one patient had cleft lip.
DECIPHER database - Of 14 patients with heterozygous sequence variants, one had cleft palate and another had bifid uvula.
Sources: LiteratureCreated: 24 Jun 2023, 8:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603
- OMIM
- 180660
- Clinvar variants
- Variants in POLR2A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
24 Jun 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: POLR2A was added gene: POLR2A was added to Clefting. Sources: Literature Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR2A were set to 31353023; 37010288 Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603 Review for gene: POLR2A was set to RED