Combined 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 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

An intronic variant that alters splicing causes a combined primary immunodeficiency with autoinflammatory features. IUIS IEI committee classifies the gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Created: 10 Nov 2024, 7:14 a.m.

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

Phenotypes
X-linked reticulate pigmentary disorder MONDO:0010523

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • X-linked reticulate pigmentary disorder MONDO:0010523
OMIM
312040
Clinvar variants
Variants in POLA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

10 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

10 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: POLA1 was added gene: POLA1 was added to Combined Immunodeficiency. Sources: Expert list 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 X-linked reticulate pigmentary disorder MONDO:0010523 Review for gene: POLA1 was set to GREEN gene: POLA1 was marked as current diagnostic