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  3. POLA1
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Clefting

Gene: POLA1

Red List (low evidence)
POLA1 (DNA polymerase alpha 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000101868
EnsemblGeneIds (GRCh37): ENSG00000101868
OMIM: 312040, Gene2Phenotype
POLA1 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Bifid uvula is a minor clinical indication that is only found in two patients with POLA1 variants and it is not fully penetrant in the family. Hence, this gene should be rated red.

PMID:3100651 - Nine patients from five unrelated families were identified with POLA1 variants, of which one patient from family C (has two reported patients) was reported with bifid uvula.

DECIPHER database - One of two patients with hemizygous sequence variants had bifid uvula.
Sources: Literature
Created: 24 Jun 2023, 8:02 a.m. | Last Modified: 24 Jun 2023, 8:04 a.m.
Panel Version: 4.68

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

Publications

Created: 24 Jun 2023, 8:02 a.m.
Last Modified: 24 Jun 2023, 8:04 a.m.
Panel version: 4.68

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
OMIM
312040
Clinvar variants
Variants in POLA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jun 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: POLA1 was added gene: POLA1 was added to Clefting. Sources: Literature 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 31006512; 37010288 Review for gene: POLA1 was set to RED