Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: POLR2AEnsemblGeneIds (GRCh38): ENSG00000181222
EnsemblGeneIds (GRCh37): ENSG00000181222
OMIM: 180660, Gene2Phenotype
POLR2A is in 4 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
A de novo insertion was identified in the Norwegian sequencing study: c.4329_4330delinsAA; p.Ala1444Thr. The variant is absent from gnomAD (v.2.1.1) but is not predicted to affect a functional domain. The patient displayed metopic synostosis, impaired motor skills, hypospadias, hypermobile joints and hyperactive behaviour (PMID:35080095).
Sources: LiteratureCreated: 23 Jul 2023, 5:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603; craniosynostosis, MONDO:0015469
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603
- craniosynostosis, MONDO:0015469
- OMIM
- 180660
- Clinvar variants
- Variants in POLR2A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
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 Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR2A were set to 35080095; 36980886 Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603; craniosynostosis, MONDO:0015469 Review for gene: POLR2A was set to RED