Fetal anomalies
Gene: LMNA

LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted LMNA gene rating from Amber to Green.
Created: 24 Mar 2019, 9:26 p.m.

Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; HUTCHINSON-GILFORD PROGERIA SYNDROME; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B; LETHAL TIGHT SKIN CONTRACTURE SYNDROME; HEART-HAND SYNDROME SLOVENIAN TYPE.
Created: 12 Feb 2019, 2:32 p.m.

Rating in original PAGE file: 'both DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A, CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, HUTCHINSON-GILFORD PROGERIA SYNDROME, MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED, MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B, LETHAL TIGHT SKIN CONTRACTURE SYNDROME and HEART-HAND SYNDROME SLOVENIAN TYPE.
Created: 6 Dec 2018, 10:07 a.m.

In the original PAGE file, MOP listed as Uncertain for CARDIOMYOPATHY DILATED TYPE 1A, CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED, MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B, and HEART-HAND SYNDROME SLOVENIAN TYPE. MOP listed as Activating for HUTCHINSON-GILFORD PROGERIA SYNDROME and LETHAL TIGHT SKIN CONTRACTURE SYNDROME. MOP Listed as LOF for EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2.
Created: 8 Nov 2018, 4:45 p.m.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.148

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

Phenotypes

HUTCHINSON-GILFORD PROGERIA SYNDROME
MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED
HEART-HAND SYNDROME SLOVENIAN TYPE
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2
CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM
LETHAL TIGHT SKIN CONTRACTURE SYNDROME
CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1
FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B
CARDIOMYOPATHY DILATED TYPE 1A

OMIM

150330

Clinvar variants

Variants in LMNA

Penetrance

None

Panels with this gene