POLH:Ensemblv90

DNA polymerase eta
OMIM: 603968, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green POLH in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, variant type, MIM# 278750 MONDO:0010214
Green POLH in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, variant type, MIM# 278750 MONDO:0010214
Green POLH in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, variant type, MIM# 278750 MONDO:0010214
Red POLH in TCGA_PANCAN_2018 Version 0.3	0 reviews	Other	Sources TCGA_PANCAN_2018 Phenotypes Xeroderma pigmentosum, variant type
Green POLH in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Xeroderma pigmentosum
Red POLH in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Xeroderma pigmentosum, variant type, MIM# 278750
Green POLH in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Xeroderma pigmentosum, variant type, MIM# 278750 MONDO:0010214
Green POLH in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Xeroderma pigmentosum, variant type, MIM# 278750 MONDO:0010214