POLE

DNA polymerase epsilon, catalytic subunit
OMIM: 174762, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red POLE in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes MONDO:0002254 syndromic disease
Green POLE in Mendeliome Version 1.1902	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 1.269	review	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 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	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 CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Polymerase proofreading-related adenomatous polyposis
Red POLE in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Polymerase proofreading-related adenomatous polyposis
Red POLE in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Polymerase proofreading-related adenomatous polyposis
Green POLE in Microcephalic Primordial Dwarfism and Slender bone dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY MIM 618336
Red POLE in Red cell disorders Level 2: Haematological disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes MONDO:0002254 syndromic disease
Green POLE in Growth failure Version 1.76	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 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes IMAGE-I syndrome 618336
Green POLE in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes IMAGE-I syndrome, MIM# 618336 Tags treatable endocrine