Arthrogryposis
Gene: LAMP2EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 23 panels
1 review
Alice Gardham (Genomics England)
Comment on mode of inheritance: ?XLDCreated: 22 Dec 2016, 1:27 p.m.
Comment on list classification: Not associated with arthrogryposisCreated: 22 Dec 2016, 1:26 p.m.
Not associated with arthrogryposisCreated: 22 Dec 2016, 1:26 p.m.
Mode of inheritance
Other
Phenotypes
Danon disease 300257
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Danon disease 300257
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- 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
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for LAMP2 were set to Danon disease 300257
Set publications
Alice Gardham (Genomics England)Publications for LAMP2 were set to 10972294
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for LAMP2 was changed to Unknown
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Upload gene information
Alice Gardham (Genomics England)LAMP2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)LAMP2 was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)LAMP2 was created by ellenmcdonagh