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Fetal anomalies

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants reported in multiple affected families with microcephaly
Sources: Literature
Created: 28 Jan 2020, 9:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

History Filter Activity

19 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

19 Jan 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: XRCC4 were changed from PRIMORDIAL DWARFISM to Short stature, microcephaly, and endocrine dysfunction, MIM#616541

19 Jan 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: XRCC4 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XRCC4 was added gene: XRCC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM