Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: LAMA2Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.Created: 28 Nov 2019, 4:56 p.m. | Last Modified: 28 Nov 2019, 4:56 p.m.
Panel Version: 1.147
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.Created: 28 Nov 2019, 4:55 p.m. | Last Modified: 28 Nov 2019, 4:55 p.m.
Panel Version: 1.146
Form of congenital muscular dystrophy, now listed on new LGMD classification as LGMDR23Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital muscular dystrophy, merosin deficient or partially deficient
Publications
Gene: lama2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: LAMA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: lama2 has been classified as Green List (High Evidence).
Source NHS GMS was added to LAMA2.
Source Yorkshire and North East GLH was added to LAMA2.
Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; congenital muscular dystroph
Mode of inheritance for gene LAMA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 for gene: LAMA2 Publications for gene LAMA2 were changed from to 12552556; 7550355
gene: LAMA2 was added gene: LAMA2 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: LAMA2 was set to