POLE

DNA polymerase epsilon, catalytic subunit
OMIM: 174762, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green POLE in Colorectal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer

Green POLE in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer

Green POLE in COVID-19 research


Level 2: Viral research
Version 1.77

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature
  • Combined immunodeficiencies with associated or syndromic features
  • FILS syndrome 615139
  • Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome)

Amber POLE in Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 2.6
Signed off v.2.2 on 19 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • IMAGE-I syndrome, OMIM:618336
Tags
  • for-review

Green POLE in GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes
Version 1.18

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • Expert Review
  • Expert list
  • Expert Review Green
Phenotypes
  • {Colorectal cancer, susceptibility to, 12} 615083 AD

Green POLE in Inherited polyposis


Version 1.24
Signed off v.1.2 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • {Colorectal cancer, susceptibility to, 12}, OMIM:615083

Amber POLE in Primary immunodeficiency


Version 2.413
Signed off v.2.1 on 24 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • FILS syndrome 615139
  • Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome)
  • Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature
  • Combined immunodeficiencies with associated or syndromic features
Tags
  • for-review

Green POLE in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.9
Signed off v.2.2 on 18 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer

Amber POLE in Fetal anomalies


Version 1.641
Signed off v.1.92 on 21 Aug 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • IUGR
  • severe growth failure of prenatal onset
  • FILS syndrome, 615139
  • facial dysmorphism, immunodeficiency, livedo, and short stature (FILS)
Tags
  • for-review

Green POLE in Severe Paediatric Disorders


Version 1.75

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • IMAGE-I syndrome, 618336
  • FILS syndrome, 615139