Primary ovarian insufficiency

Gene: LMNA

Amber List (moderate evidence)

LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 31 panels

2 reviews

Arianna Tucci (Genomics England Curator)

I don't know

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

Ellen McDonagh (Genomics England Curator)

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.

History Filter Activity

31 May 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

22 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 May 2017, Gel status: 2

Set publications

Arianna Tucci (Genomics England Curator)

Publications for LMNA were set to 19283854

22 May 2017, Gel status: 2

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Early onset familial premature ovarian insufficiencypanel. Sources: Other

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LMNA was created by ellenmcdonagh