Monogenic short stature
Gene: XRCC4

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.

Created: 30 May 2019, 9:49 a.m.

Copied from panel: Growth failure in early childhood v3.84

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Short stature, microcephaly, and endocrine dysfunction, OMIM:616541

OMIM

194363

Clinvar variants

Variants in XRCC4

Penetrance

None

Publications

25728776

Panels with this gene

History Filter Activity

7 Aug 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: XRCC4 were changed from short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: XRCC4 was added gene: XRCC4 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC4 were set to 25728776 Phenotypes for gene: XRCC4 were set to short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism

Monogenic short stature Gene: XRCC4