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Mendeliome

Gene: GNA13

Amber List (moderate evidence)

GNA13 (G protein subunit alpha 13)
EnsemblGeneIds (GRCh38): ENSG00000120063
EnsemblGeneIds (GRCh37): ENSG00000120063
OMIM: 604406, Gene2Phenotype
GNA13 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: Only a single recurrent variant reported at this point.
Created: 3 Mar 2025, 8:44 p.m. | Last Modified: 3 Mar 2025, 8:44 p.m.
Panel Version: 1.2337
4 unrelated cases with a recurrent post-zygotic GNA13 variant (NM_006572.4:c.599G>A p.Arg200Lys) with a syndrome including hypomelanosis of Ito associated with developmental anomalies. The variant was identified in one patient via exome sequencing of paired tissue/blood and then targeted GNA13 testing of other cases. In vitro assays demonstrate a gain of function for the variant. Q226L was an artificial variant demonstrating a gain of function similar to R200K. The suggested mechanism of disease is through upregulation of the RHOA/ROCK pathway altering melanocyte function.
Sources: Literature
Created: 3 Mar 2025, 8:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ito hypomelanosis MONDO:0010302

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ito hypomelanosis MONDO:0010302
Tags
somatic
OMIM
604406
Clinvar variants
Variants in GNA13
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

5 Mar 2025, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: GNA13.

3 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gna13 has been classified as Amber List (Moderate Evidence).

3 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gna13 has been classified as Amber List (Moderate Evidence).

3 Mar 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GNA13 was added gene: GNA13 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GNA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNA13 were set to 39966435 Phenotypes for gene: GNA13 were set to Ito hypomelanosis MONDO:0010302 Mode of pathogenicity for gene: GNA13 was set to Other Review for gene: GNA13 was set to AMBER