Rare genetic inflammatory skin disorders

Gene: GNB1

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.

Created: 4 Dec 2024, 4:58 p.m. | Last Modified: 4 Dec 2024, 4:58 p.m.

Panel Version: 3.22

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

• 29174093
• 30194818
• 35119134

Green List (high evidence)

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

Created: 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

• 35119134

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments