IUGR and IGF abnormalities

Gene: XRCC4

Green List (high evidence)

XRCC4 (X-ray repair cross complementing 4)
EnsemblGeneIds (GRCh38): ENSG00000152422
EnsemblGeneIds (GRCh37): ENSG00000152422
OMIM: 194363, Gene2Phenotype
XRCC4 is in 8 panels

2 reviews

Peter Clayton (University of Manchester)

Green List (high evidence)

Philip Murray (University of Manchester)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism
OMIM
194363
Clinvar variants
Variants in XRCC4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Oct 2015, Gel status: 0

Added New Source

Philip Murray (University of Manchester)

XRCC4 was added to IUGR and IGF abnormalitiespanel. Sources: Literature

23 Oct 2015, Gel status: 0

Created

Philip Murray (University of Manchester)

XRCC4 was created by PhilMurray