Rare genetic inflammatory skin disorders
Gene: GNB1
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.Created: 10 Apr 2024, 6:36 p.m. | Last Modified: 10 Apr 2024, 6:36 p.m.
Panel Version: 3.10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 42, OMIM:616973; cutaneous mastocytosis, MONDO:0019023
Publications
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: LiteratureCreated: 5 Aug 2023, 9:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cutaneous mastocytosis; Intellectual developmental disorder, autosomal dominant 42
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: gnb1 has been classified as Amber List (Moderate Evidence).
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
Publications for gene: GNB1 were set to 35119134
Tag Q2_24_promote_green tag was added to gene: GNB1.
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