Congenital adrenal hypoplasia
Gene: POLEEnsemblGeneIds (GRCh38): ENSG00000177084
EnsemblGeneIds (GRCh37): ENSG00000177084
OMIM: 174762, Gene2Phenotype
POLE is in 10 panels
1 review
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:31 p.m. | Last Modified: 3 Mar 2022, 1:31 p.m.
Panel Version: 2.9
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 ReviewCreated: 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 Green
- Expert Review
- Phenotypes
-
- IMAGE-I syndrome, OMIM:618336
- OMIM
- 174762
- Clinvar variants
- Variants in POLE
- Penetrance
- None
- Publications
- Panels with this gene
-
- GI tract tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Adult solid tumours cancer susceptibility
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- COVID-19 research
- Congenital adrenal hypoplasia
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: POLE.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to POLE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pole has been classified as Amber List (Moderate Evidence).
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