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  3. XRCC4
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Skeletal dysplasia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 23 Apr 2021, 12:06 p.m.
Last Modified: 23 Apr 2021, 12:06 p.m.
Panel version: Imported from Mendeliome panel version 0.7307

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 28 Jan 2020, 9:34 p.m.
Last Modified: 28 Jan 2020, 9:34 p.m.
Panel version: Imported from Mendeliome panel version 0.1007

Details

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

History Filter Activity

17 Dec 2019, 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 Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction 616541