POLE

DNA polymerase epsilon, catalytic subunit
OMIM: 174762, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 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 1.40	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 1.142	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)
Green POLE in Congenital adrenal hypoplasia Level 3: Adrenal disorders Level 2: Endocrine disorders Version 3.11 Latest signed off version: v3.0 (30 Nov 2022)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes IMAGE-I syndrome, OMIM:618336
Green POLE in GI tract tumours Level 3: GI tract Level 2: Tumour syndromes Version 1.22	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert List Expert Review Expert Review Green Expert list Phenotypes {Colorectal cancer, susceptibility to, 12} 615083 AD
Green POLE in Inherited polyposis and early onset colorectal cancer - germline testing Version 2.11 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert List Phenotypes {Colorectal cancer, susceptibility to, 12}, OMIM:615083
Green POLE in Primary immunodeficiency or monogenic inflammatory bowel disease Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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
Green POLE in Adult solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 2.29 Latest signed off version: v2.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert list Phenotypes Colorectal cancer
Green POLE in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes IUGR severe growth failure of prenatal onset FILS syndrome, 615139 facial dysmorphism, immunodeficiency, livedo, and short stature (FILS)
Green POLE in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IMAGe Syndrome with variable immunodeficiency
Green POLE in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes IMAGE-I syndrome, 618336 FILS syndrome, 615139