Pigmentary skin disorders
Gene: LMNA
LMNA variants have been associated with various conditions, including Hutchinson-Gilford progeria (OMIM:176670) and Mandibuloacral dysplasia (OMIM:248370). Skin mottling has been reported in both of these conditions, and hyper and hypopigmentation is a feature of Mandibuloacral dysplasia (OMIM:248370). Numerous LMNA variants have been reported in these conditions.Created: 5 Feb 2024, 3:03 p.m. | Last Modified: 5 Feb 2024, 3:03 p.m.
Panel Version: 3.10
Comment on mode of inheritance: Hutchinson-Gilford progeria, OMIM:176670 is monoallelic, Mandibuloacral dysplasia, OMIM:248370 is biallelicCreated: 5 Feb 2024, 2:36 p.m. | Last Modified: 5 Feb 2024, 2:36 p.m.
Panel Version: 3.9
LMNA requested to be added to pigmentary disorders panel by Prof Kinsler, due to pigmentary lesions being an early sign of LMNA-progeria (AD).
Mottled pigmentation also a feature of MADA (AR).
Sources: Expert listCreated: 11 Jan 2024, 4:57 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hutchinson-Gilford progeria syndrome (HGPS) (MIM 176670); Mandibuloacral dysplasia with type A lipodystrophy (MADA)
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
Tag Q1_24_promote_green tag was added to gene: LMNA. Tag Q1_24_NHS_review tag was added to gene: LMNA.
Gene: lmna has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were changed from Hutchinson-Gilford progeria syndrome (HGPS) (MIM 176670); Mandibuloacral dysplasia with type A lipodystrophy (MADA) to Hutchinson-Gilford progeria, OMIM:176670; Hutchinson-Gilford progeria syndrome, MONDO:0008310; Mandibuloacral dysplasia, OMIM:248370; mandibuloacral dysplasia with type A lipodystrophy MONDO:0009557
Publications for gene: LMNA were set to PMID: 12714972; https://www.ncbi.nlm.nih.gov/books/NBK1121/#; 12075506; 17848409
gene: LMNA was added gene: LMNA was added to Pigmentary skin disorders. Sources: Expert list Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LMNA were set to PMID: 12714972; https://www.ncbi.nlm.nih.gov/books/NBK1121/#; 12075506; 17848409 Phenotypes for gene: LMNA were set to Hutchinson-Gilford progeria syndrome (HGPS) (MIM 176670); Mandibuloacral dysplasia with type A lipodystrophy (MADA) Penetrance for gene: LMNA were set to Complete Mode of pathogenicity for gene: LMNA 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: LMNA was set to GREEN