XPC:Ensemblv115

XPC complex subunit, DNA damage recognition and repair factor
OMIM: 613208, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green XPC 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, group C, MIM# 278720
  • MONDO:0010211

Green XPC in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green XPC in Photosensitivity Syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group C, MIM# 278720
  • MONDO:0010211

Green XPC in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green XPC in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group C, 278720 (3)

Green XPC in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Xeroderma pigmentosum

Green XPC in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group C, 278720 (3)

Green XPC in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group C MIM#278720
Tags
  • treatable
  • clinical trial

Green XPC in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group C, MIM#278720