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  3. XRCC4
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Chromosome Breakage Disorders

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 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 23 Apr 2021, 12:04 p.m. | Last Modified: 23 Apr 2021, 12:04 p.m.
Panel Version: 0.158

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, microcephaly, and endocrine dysfunction, MIM# 616541; MONDO:0014686

Publications

Created: 23 Apr 2021, 12:04 p.m.
Last Modified: 23 Apr 2021, 12:04 p.m.
Panel version: 0.158

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction, MIM# 616541
  • MONDO:0014686
OMIM
194363
Clinvar variants
Variants in XRCC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xrcc4 has been classified as Green List (High Evidence).

23 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction, MIM# 616541; MONDO:0014686

23 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: XRCC4 were set to

23 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: XRCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XRCC4 was added gene: XRCC4 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: XRCC4 was set to Unknown