gene2phenotype

For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome

Gene: GNA14 Disease: GNA14-related Congenital vascular tumours

Allelic requirement: monoallelic_autosomal
Cross cutting modifier: typically mosaic
Mutation consequence summary: altered gene product structure
Mutation consequence flag: activating; restricted repertoire of mutations

Panel	Confidence category
DD	strong

Gene: GNA14

Location

Synonyms
OMIM MIM: 604397
Ensembl stable ID: ENSG00000156049
Variant information: ClinVar DECIPHER
Protein information: DECIPHER

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Disease: Congenital vascular tumours

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Publications

GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation. (Am J Hum Genet 99: 443-450, 2016)

Phenotypes

Hemangioma

Look up phenotypes associated with GNA14 in DECIPHER