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Severe Paediatric Disorders

Gene: POLR2A

Green List (high evidence)

POLR2A (RNA polymerase II subunit A)
EnsemblGeneIds (GRCh38): ENSG00000181222
EnsemblGeneIds (GRCh37): ENSG00000181222
OMIM: 180660, Gene2Phenotype
POLR2A is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: POLR2A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603
OMIM
180660
Clinvar variants
Variants in POLR2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene POLR2A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene POLR2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 for gene: POLR2A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 for gene: POLR2A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 for gene: POLR2A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 for gene: POLR2A

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to POLR2A.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to POLR2A. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: POLR2A was added gene: POLR2A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: POLR2A was set to