Neurofibromatosis Type 1

Gene: POLA1

Amber List (moderate evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

From PMID: 27019227 (2012) In affected members of 12 unrelated families with X-linked PDR, a intronic mutation, hemizygous (in males) or heterozygous (in females) was idenitified in the POLA1 gene. All affected individuals carried the same mutation.The clinical phenotype of the patient cohort was accessed and only two cases were reported with developmental delay phenotype (cases from Dallas, Canada), but there is an additional unrleated case from Waco denoted with Failure to thrive phenotype. Gene added to the NF1 panel from a review of the gene in relation to the intellectual disability panel after discussion with the clinical team.
Added non-coding-known-pathogenic variant tag
Created: 5 Dec 2017, 5:03 p.m.

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

Phenotypes
Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220; XLPDR

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220
  • XLPDR
Tags
non-coding-known-pathogenic
OMIM
312040
Clinvar variants
Variants in POLA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Dec 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

POLA1 was added to Neurofibromatosis Type 1 panel. Sources: Literature

5 Dec 2017, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

POLA1 was created by Louise Daugherty