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  3. GNA11
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Vascular Malformations_Germline

Gene: GNA11

Red List (low evidence)
GNA11 (G protein subunit alpha 11)
EnsemblGeneIds (GRCh38): ENSG00000088256
EnsemblGeneIds (GRCh37): ENSG00000088256
OMIM: 139313, Gene2Phenotype
GNA11 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Probably not suitable for a germline testing panel
Created: 20 Jan 2020, 6:52 a.m. | Last Modified: 20 Jan 2020, 6:52 a.m.
Panel Version: 0.3
Somatic activating mutations in GNA11 cause PPV a rare condition that feature vascular abnormalities and melanocytic lesions that can be solely cutaneous or multisystem in nature. Codons 183 and 209 are reported hotspot activating mutations.
Created: 20 Jan 2020, 6:51 a.m. | Last Modified: 20 Jan 2020, 6:51 a.m.
Panel Version: 0.2

Mode of inheritance
Other

Phenotypes
Phacomatosis pigmentovascularis, somatic

Publications

Mode of pathogenicity
Other

Created: 20 Jan 2020, 6:51 a.m.
Last Modified: 20 Jan 2020, 6:51 a.m.
Panel version: 0.2

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Somatic hemangioma
Tags
somatic
OMIM
139313
Clinvar variants
Variants in GNA11
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

2 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gna11 has been classified as Red List (Low Evidence).

2 Jun 2020, Gel status: 1

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: GNA11 was changed from to Other

2 Jun 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GNA11 was changed from to Other

20 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gna11 has been classified as Red List (Low Evidence).

20 Jan 2020, Gel status: 2

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag somatic tag was added to gene: GNA11.

20 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gna11 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GNA11 was added gene: GNA11 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GNA11 was set to Publications for gene: GNA11 were set to 30677207 Phenotypes for gene: GNA11 were set to Somatic hemangioma