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  2. Vascular Malformations_Germline
  3. GNA14
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Vascular Malformations_Germline

Gene: GNA14

Red List (low 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. This gene is not really suitable for a germline testing panel.
Created: 20 Jan 2020, 7:55 a.m. | Last Modified: 20 Jan 2020, 7:55 a.m.
Panel Version: 0.15
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.

Panel version: 0.14

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Tufted angioma
  • Anastomosing hemangioma
  • vascular tumours
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

2 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gna14 has been classified as Red List (Low Evidence).

20 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gna14 has been classified as Red List (Low Evidence).

20 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GNA14 was added gene: GNA14 was added to Vascular Malformations_RMH. Sources: Expert list somatic tags were added to gene: GNA14. 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; Anastomosing hemangioma; vascular tumours 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 Review for gene: GNA14 was set to GREEN