Mosaic skin disorders
Gene: GNA13
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: 1.14
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. 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: LiteratureCreated: 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
Tag somatic tag was added to gene: GNA13.
Gene: gna13 has been classified as Amber List (Moderate Evidence).
Gene: gna13 has been classified as Amber List (Moderate Evidence).
gene: GNA13 was added gene: GNA13 was added to Mosaic skin disorders. 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