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
-
- NHS GMS
- London South GLH
- Expert Review Amber
- Phenotypes
-
- Danon disease, OMIM:300257
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- Retinal disorders
- DDG2P
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Hereditary neuropathy or pain disorder
- Progressive cardiac conduction disease
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LAMP2 were changed from vacuolar myopathy?; Danon disease, 300257 to Danon disease, OMIM:300257
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: LAMP2 were changed from vacuolar myopathy? to vacuolar myopathy?; Danon disease, 300257
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to LAMP2.
Added New Source
Louise Daugherty (Genomics England Curator)Source London South GLH was added to LAMP2.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for LAMP2 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set publications
Helen Brittain (Genomics England Curator)Publications for LAMP2 were set to 12084876; 21415759
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Anna Sarkozy (Great Ormond Street Hospital)LAMP2 was created by anna.sarkozy
Added New Source
Anna Sarkozy (Great Ormond Street Hospital)LAMP2 was added to Congenital myopathypanel. Sources: Expert Review