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Vascular Malformations_Germline v0.93 GNA14 Zornitza Stark Marked gene: GNA14 as ready
Vascular Malformations_Germline v0.93 GNA14 Zornitza Stark Gene: gna14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Classified gene: GNA14 as Red List (low evidence)
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Added comment: 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.
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Gene: gna14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.14 GNA14 Bryony Thompson 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
Added comment: Somatic activating mutations cause sporadic and congenital vascular tumours.
Sources: Expert list