XPA

XPA, DNA damage recognition and repair factor
OMIM: 611153, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green XPA 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 A , MIM#278700
  • MONDO:0010210

Green XPA in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

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

Green XPA 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 A , MIM#278700
  • MONDO:0010210

Green XPA in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green XPA in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group A , MIM#278700
  • MONDO:0010210

Green XPA 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 A, 278700 (3)

Green XPA 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 XPA 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 A , MIM#278700

Green XPA 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 A MIM#278700
Tags
  • treatable
  • clinical trial

Green XPA in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group A , MIM#278700