Severe microcephaly
Gene: XRCC4EnsemblGeneIds (GRCh38): ENSG00000152422
EnsemblGeneIds (GRCh37): ENSG00000152422
OMIM: 194363, Gene2Phenotype
XRCC4 is in 8 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Alice Gardham (Genomics England)
Recognised on G2P. On expert listCreated: 12 Jan 2017, 10:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, microcephaly, and endocrine dysfunction 616541
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Other
- Expert list
- Phenotypes
-
- Short stature, microcephaly, and endocrine dysfunction, OMIM:616541
- Microcephalic primordial dwarfism
- OMIM
- 194363
- Clinvar variants
- Variants in XRCC4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: XRCC4 were changed from MPD; microcephalic primordial dwarfism; Short stature, microcephaly, and endocrine dysfunction, 616541 to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541; Microcephalic primordial dwarfism
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to XRCC4.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for XRCC4 were set to 24389050
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)XRCC4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)XRCC4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Rebecca Foulger (Genomics England curator)XRCC4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
Created
Rebecca Foulger (Genomics England curator)XRCC4 was created by rfoulger