Congenital adrenal hypoplasia

Gene: POLE

Amber List (moderate evidence)

POLE (DNA polymerase epsilon, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000177084
EnsemblGeneIds (GRCh37): ENSG00000177084
OMIM: 174762, Gene2Phenotype
POLE is in 10 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases and therefore, enough evidence to support a gene-disease association. This gene should be Green at the next review.

This gene was also proposed to be added and given Green status by Soo-Mi Park (East Anglian Medical Genetics Service).
Sources: Expert Review
Created: 28 Jan 2021, 1:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
IMAGE-I syndrome, OMIM:618336

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • IMAGE-I syndrome, OMIM:618336
Tags
for-review
OMIM
174762
Clinvar variants
Variants in POLE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pole has been classified as Amber List (Moderate Evidence).

28 Jan 2021, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: POLE was added gene: POLE was added to Congenital adrenal hypoplasia. Sources: Expert Review for-review tags were added to gene: POLE. Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 14760276; 30503519 Phenotypes for gene: POLE were set to IMAGE-I syndrome, OMIM:618336 Review for gene: POLE was set to GREEN