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COVID-19 research

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 6 panels

5 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added OMIM phenotype
Created: 5 Jul 2018, 4:39 p.m.
Comment on publications: Added publication reporting cases of variants in POLA1
Created: 5 Jul 2018, 4:39 p.m.
Comment on list classification: Probable disease causing mutation found in more than 3 families. Segregation pattern following an X-linked pattern of inheritance is seen.
Created: 5 Jul 2018, 4:38 p.m.
In OMIM this gene is associated with Pigmentary disorder, reticulate, with systemic manifestations, X-linked. OMIM reports that in affected members of 12 unrelated families with X-linked reticulate pigmentary disorder (PDR; 301220), Starokadomskyy et al. (2016) (PMID: 27019227) identified a hemizygous (in males) or heterozygous (in females) intronic mutation in the POLA1 gene resulting the introduction of a novel exon. All affected individuals carried the same mutation, which was initially identified by whole-genome sequencing of 4 probands. Haplotype analysis showed that 2 of the families shared a common founder, but others gained the mutation independently, including at lease 1 de novo case. Patient fibroblasts and lymphoblastoid cells showed aberrant splicing and a decrease in POLA1 protein levels to about 35% that of controls.
Created: 5 Jul 2018, 4:36 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Very strong genetic evidence that a recurrent intronic variant causes this disorder in multiple unrelated kindreds
Created: 30 Jun 2018, 5:11 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
X-linked reticulate pigmentary disorder; x-linked cutaneous amyloidosis with systemic features

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • Hyperpigmentation, characteristic facies, lung and GI involvement
  • Autoinflammatory Disorders
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked 301220
  • X-linked reticulate pigmentary disorder
  • x-linked cutaneous amyloidosis with systemic features
OMIM
312040
Clinvar variants
Variants in POLA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: POLA1 was added gene: POLA1 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: POLA1 were set to 27019227 Phenotypes for gene: POLA1 were set to Hyperpigmentation, characteristic facies, lung and GI involvement; Autoinflammatory Disorders; Pigmentary disorder, reticulate, with systemic manifestations, X-linked 301220; X-linked reticulate pigmentary disorder; x-linked cutaneous amyloidosis with systemic features