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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 8 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

green - multiple reports. Clinical features include short stature.; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, microcephaly, and endocrine dysfunction 616541

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: XRCC4; Initial rating suggestion: green if SD
Created: 6 Mar 2019, 11:37 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 1 Aug 2016, 9:50 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, microcephaly, and endocrine dysfunction 616541

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction 616541
OMIM
194363
Clinvar variants
Variants in XRCC4
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Short stature, microcephaly, and endocrine dysfunction 616541 for gene: XRCC4

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to XRCC4. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

1 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction 616541

1 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for XRCC4 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Aug 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

XRCC4 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

XRCC4 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

XRCC4 was created by sleigh