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| Rare genetic inflammatory skin disorders v3.10 | GNB1 | Achchuthan Shanmugasundram Classified gene: GNB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.10 | GNB1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are five cases reported with cutaneous mastocytosis. Cutaneous mastocytosis has also been reported as one of the clinical presentations of the OMIM phenotype Intellectual developmental disorder, autosomal dominant 42 (MIM #616973). Hence, this gene can be promoted to green rating in the next GMS review. |
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| Rare genetic inflammatory skin disorders v3.10 | GNB1 | Achchuthan Shanmugasundram Gene: gnb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.9 | GNB1 | Achchuthan Shanmugasundram Phenotypes for gene: GNB1 were changed from Cutaneous mastocytosis; Intellectual developmental disorder, autosomal dominant 42 to Intellectual developmental disorder, autosomal dominant 42, OMIM:616973; cutaneous mastocytosis, MONDO:0019023 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.8 | GNB1 | Achchuthan Shanmugasundram Publications for gene: GNB1 were set to 35119134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.7 | GNB1 | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: GNB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.7 | GNB1 | Achchuthan Shanmugasundram reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29174093, 30194818, 35119134; Phenotypes: Intellectual developmental disorder, autosomal dominant 42, OMIM:616973, cutaneous mastocytosis, MONDO:0019023; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.1 | GNB1 |
Dmitrijs Rots gene: GNB1 was added gene: GNB1 was added to Rare genetic inflammatory skin disorders. Sources: Literature Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB1 were set to 35119134 Phenotypes for gene: GNB1 were set to Cutaneous mastocytosis; Intellectual developmental disorder, autosomal dominant 42 Mode of pathogenicity for gene: GNB1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: GNB1 was set to GREEN Added comment: 5 cases reported with cutaneous mastocytosis and a de novo missense variant (mostly recurrent). Although rare feature (to date reported ~60 cases with GNB1-related disorder), enough evidence for green rating due to mastocytosis. Sources: Literature |
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