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Primary immunodeficiency

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 list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 14 Oct 2020, 1:40 p.m. | Last Modified: 14 Oct 2020, 1:40 p.m.
Panel Version: 2.294
The following PubMed IDs were added to entity POLA1: 15804299;6794369. These publications have been associated with OMIM phenotype MIM#301220, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
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.

Publications

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
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
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

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pola1 has been classified as Green List (High Evidence).

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to POLA1. Publications for gene POLA1 were updated from 27019227 to 27019227; 6794369; 15804299 Rating Changed from Green List (high evidence) to Red List (low evidence)

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to POLA1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to POLA1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to POLA1.

12 Jul 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pola1 has been classified as Green List (High Evidence).

6 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

5 Jul 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

5 Jul 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: POLA1 were set to 27019227

5 Jul 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: POLA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

5 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pola1 has been classified as Green List (High Evidence).

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene POLA1 were set to Hyperpigmentation, characteristic facies, lung and GI involvement, Autoinflammatory Disorders

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

POLA1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

POLA1 was created by Louise Daugherty