Vascular skin disorders

Gene: GNA11

No list

GNA11 (G protein subunit alpha 11)
EnsemblGeneIds (GRCh38): ENSG00000088256
EnsemblGeneIds (GRCh37): ENSG00000088256
OMIM: 139313, Gene2Phenotype
GNA11 is in 9 panels

3 reviews

Catherine Snow (Genomics England)

Comment on list classification: Following advice from Tom Cullup of GOSH "test on this not fit for purpose as only v.low level mosaicism. To be fulfilled by mosaic panel."
Created: 11 Dec 2019, 8:21 p.m. | Last Modified: 11 Dec 2019, 8:21 p.m.
Panel Version: 0.37

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: GNA11; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 12:05 p.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Phenotypes
  • Phakomatosis pigmentovascularis
  • Extensive dermal melanocytosis
OMIM
139313
Clinvar variants
Variants in GNA11
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 0

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: gna11 has been removed from the panel.

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to GNA11.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GNA11 was added gene: GNA11 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNA11 were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis