Mosaic skin disorders
Gene: GNA14EnsemblGeneIds (GRCh38): ENSG00000156049
EnsemblGeneIds (GRCh37): ENSG00000156049
OMIM: 604397, Gene2Phenotype
GNA14 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kaposiform endothelioma; Tufted angioma
Mathew Wallis (Tasmanian Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
- PMID: 27476652
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- NHS GMS
- Phenotypes
-
- Kaposiform endothelioma
- Tufted angioma
- Tags
- OMIM
- 604397
- Clinvar variants
- Variants in GNA14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gna14 has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: GNA14.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GNA14 was added gene: GNA14 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNA14 were set to 27476652 Phenotypes for gene: GNA14 were set to Kaposiform endothelioma; Tufted angioma