PanelApp (test)
  1. Genes and Genomic Entities
  2. XRCC4

XRCC4

X-ray repair cross complementing 4
OMIM: 194363, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green XRCC4 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
  • Short stature, microcephaly, and endocrine dysfunction, MIM# 616541
  • MONDO:0014686

Green XRCC4 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • NHS GMS
  • Expert list
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction 616541

Green XRCC4 in Microcephalic Primordial Dwarfism and Slender bone dysplasias

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction (MIM#616541)

Green XRCC4 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
  • Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive

Green XRCC4 in Growth failure


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction, MIM# 616541
  • MONDO:0014686

Green XRCC4 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction, MIM#616541

Green XRCC4 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction MIM#616541