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Intellectual disability syndromic and non-syndromic

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

2 reviews

Claire Fryer-Smith (University of Melbourne)

Green List (high evidence)

Intellectual disability described in numerous individuals with SSMED, caused by biallelic variants in the XRCC4 gene (PMID: 25872942, 25839420, 18695064).
Created: 14 Sep 2023, 11:38 p.m. | Last Modified: 14 Sep 2023, 11:38 p.m.
Panel Version: 0.5399

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, microcephaly, and endocrine dysfunction MIM#616541

Publications

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

Developmental delay is a prominent feature of XRCC4-related short stature, microcephaly, and endocrine dysfunction
Created: 14 Sep 2023, 11:33 p.m. | Last Modified: 14 Sep 2023, 11:33 p.m.
Panel Version: 0.5399

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
short stature, microcephaly, and endocrine dysfunction MONDO:0014686

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

16 Sep 2023, 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).

16 Sep 2023, 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

16 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: XRCC4 were set to

16 Sep 2023, 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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: XRCC4 was set to Unknown