Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: LAMP2Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.Created: 28 Nov 2019, 4:55 p.m. | Last Modified: 28 Nov 2019, 4:55 p.m.
Panel Version: 1.145
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: 1.144
Danon disease. Differential diagnosis with LGMD.Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Danon disease
Publications
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Danon disease, 300257
Publications
Gene: lamp2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: LAMP2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene: lamp2 has been classified as Green List (High Evidence).
Source NHS GMS was added to LAMP2.
Source Yorkshire and North East GLH was added to LAMP2.
Mode of inheritance for gene LAMP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Danon disease, 300257 for gene: LAMP2 Publications for gene LAMP2 were changed from to 10972294
gene: LAMP2 was added gene: LAMP2 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: LAMP2 was set to