POLE

DNA polymerase epsilon, catalytic subunit
OMIM: 174762, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red POLE in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes MONDO:0002254 syndromic disease
Green POLE in Mendeliome Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes FILS syndrome, 615139 IMAGE-I syndrome, 618336 {Colorectal cancer, susceptibility to, 12}, 615083 Tags deep intronic
Green POLE in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes IMAGE-I syndrome, MIM# 618336
Green POLE in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes FILS syndrome, MIM# 615139 IMAGE-I syndrome, MIM# 618336 Tags deep intronic
Red POLE in Red cell disorders Level 2: Haematological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes MONDO:0002254 syndromic disease
Green POLE in Growth failure Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes FILS syndrome, MIM# 615139 IMAGE-I syndrome, MIM# 618336 Tags deep intronic
Green POLE in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes IMAGE-I syndrome 618336
Green POLE in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes IMAGE-I syndrome MIM#618336 FILS syndrome MIM#615139
Green POLE in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes IMAGE-I syndrome, MIM# 618336 Tags treatable endocrine
Green POLE in Colorectal Cancer and Polyposis Level 2: Cancer Predisposition Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287 POLE-associated polyposis, MIM#615083
Green POLE in Endometrial Cancer Level 2: Cancer Predisposition Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Endometrial cancer, MONDO:0011962 POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287 POLE-associated polyposis, MIM#615083
Green POLE in Adrenal insufficiency Level 3: Adrenal disorders Level 2: Endocrine disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes IMAGE-I syndrome, MONDO:0032684