POLD1

DNA polymerase delta 1, catalytic subunit
OMIM: 174761, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green POLD1 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381 MONDO:0014157
Green POLD1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381 MONDO:0014157 Immunodeficiency 120, MIM# 620836
Green POLD1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381 Non-syndromic deafness
Green POLD1 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 Expert list Phenotypes Immunodeficiency 120, MIM# 620836 Low CD4 T cells Low B cells, normal maturation recurrent respiratory tract infections, skin infections, warts and molluscum short stature intellectual disability
Red POLD1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability immunodeficiency
Red POLD1 in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Polymerase proofreading-related adenomatous polyposis
Red POLD1 in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Polymerase proofreading-related adenomatous polyposis
Red POLD1 in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Polymerase proofreading-related adenomatous polyposis
Green POLD1 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157
Green POLD1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 615381