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Vascular Malformations_Somatic

Gene: GNA14

Green List (high evidence)
GNA14 (G protein subunit alpha 14)
EnsemblGeneIds (GRCh38): ENSG00000156049
EnsemblGeneIds (GRCh37): ENSG00000156049
OMIM: 604397, Gene2Phenotype
GNA14 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Somatic activating mutations have only been reported to cause vascular malformations.
Created: 20 Jan 2020, 7:55 a.m. | Last Modified: 1 Jul 2020, 11:30 p.m.
Panel Version: 0.9
Somatic activating mutations cause sporadic and congenital vascular tumours.
Sources: Expert list
Created: 20 Jan 2020, 7:54 a.m.

Mode of inheritance
Other

Phenotypes
Tufted angioma; Anastomosing hemangioma; vascular tumours

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 20 Jan 2020, 7:54 a.m.
Last Modified: 1 Jul 2020, 11:30 p.m.
Panel version: Imported from Inherited Vascular Malformations panel version 0.14

Details

Mode of Inheritance
Other
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Tufted angioma
  • vascular tumours
  • Anastomosing hemangioma
Tags
somatic
OMIM
604397
Clinvar variants
Variants in GNA14
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gna14 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: GNA14.

1 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNA14 was added gene: GNA14 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GNA14 was set to Other Publications for gene: GNA14 were set to 31423605; 31707589; 27476652 Phenotypes for gene: GNA14 were set to Tufted angioma; vascular tumours; Anastomosing hemangioma Mode of pathogenicity for gene: GNA14 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments