Congenital muscular dystrophy and congenital myopathy
Gene: LAMP2EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 23 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Rachael Mein (Viapath at Guy's Hospital)
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
vacuolar myopathy?
Publications
Variants in this GENE are reported as part of current diagnostic practice
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Age of onset out of range for this panel.Created: 7 Mar 2017, 4:32 p.m.
Comment on publications: Evidence for causation but age of onset out of keeping (PMID 21415759 first symptoms in males 12.1 years and 27.9 years in females), often with cardiomyopathy as first presentation.Created: 7 Mar 2017, 4:31 p.m.
Comment on list classification: Age of onset not consistent with congenital myopathyCreated: 7 Mar 2017, 4:30 p.m.
Anna Sarkozy (Great Ormond Street Hospital)
note: this gene causes a vacuolar myopathy and perhaps could be also considered in the Vici syndrome and other autophagic disorders (panel 222). please discuss with the reviewers of that panelCreated: 30 May 2019, 4:59 p.m.
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
vacuolar myopathy, Danon disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review
- London South GLH
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Danon disease, OMIM:300257
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Rhabdomyolysis and metabolic muscle disorders
- Progressive cardiac conduction disease
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Glycogen storage disease
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Acute rhabdomyolysis
- Lysosomal storage disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: LAMP2 was added gene: LAMP2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Amber,London South GLH,Expert Review Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAMP2 were set to 12084876; 21415759 Phenotypes for gene: LAMP2 were set to Danon disease, OMIM:300257 Penetrance for gene: LAMP2 were set to Complete