| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2351 | GNA13 | Zornitza Stark Tag somatic tag was added to gene: GNA13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2337 | GNA13 | Bryony Thompson Marked gene: GNA13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2337 | GNA13 | Bryony Thompson Gene: gna13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2337 | GNA13 | Bryony Thompson Classified gene: GNA13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2337 | GNA13 | Bryony Thompson Added comment: Comment on list classification: Only a single recurrent variant reported at this point. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2337 | GNA13 | Bryony Thompson Gene: gna13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2336 | GNA13 |
Bryony Thompson 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 Added comment: 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 |
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