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Severe Paediatric Disorders

Gene: POLA1

Green List (high evidence)

POLA1 (DNA polymerase alpha 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000101868
EnsemblGeneIds (GRCh37): ENSG00000101868
OMIM: 312040, Gene2Phenotype
POLA1 is in 7 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: POLA1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3) | Van Esch-O'Driscoll syndrome, 301030 (3); Mode of inheritance: X-linked recessive | X-linked recessive
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Van Esch-O'Driscoll syndrome, 301030
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220
OMIM
312040
Clinvar variants
Variants in POLA1
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 POLA1 were updated from to 30847515