POLH

DNA polymerase eta
OMIM: 603968, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 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 1.3512

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 1.10

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 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 1.140

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Xeroderma pigmentosum, variant type, MIM# 278750

Green POLH in Hereditary Pigmentary Disorders


Level 2: Dermatological disorders
Version 1.3

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum variant type MONDO:0010214