Primary ovarian insufficiency
Gene: LMNA
Comment when marking as ready: Marked as amber as POI reported in 2 sporadic patients.Created: 22 May 2017, 9:53 a.m.
Mutations in the LMNA gene cause a variety of disorders including dilated cardiomyopathy, muscular dystrophy, familial lipodystrophy, progeria, atypical progeroid syndromes, and mandibuloacral dysplasia. Premature ovarian insufficiency has been described in two unrelated patients presenting with dysmorphic features and progressive dilated cardiomyopathy and carrying the same mutation (c.176T>G, Leu59Arg).
Created: 10 May 2017, 1:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 1A 115200
Publications
This gene is also on The University of Chicago Genetic Services Laboratories Next Generation Sequencing Panel for Premature Ovarian Failure.Created: 13 Jun 2016, 2:39 p.m.
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Amber List (Moderate Evidence).
Publications for LMNA were set to 19283854
Mode of inheritance for LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Amber List (Moderate Evidence).
LMNA was added to Early onset familial premature ovarian insufficiencypanel. Sources: Other
LMNA was created by ellenmcdonagh