Vici Syndrome and other autophagy disorders
Gene: LAMP2
LAMP2 (lysosomal associated membrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 23 panels
2 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: All sources (Illumina, Radboud, Emory and UKGTN) link mutations in LAMP2 with Danon disease. More than three unrelated cases with different mutations (including microdeletions) in LAMP2 recorded in the literature as linked to the disease, from different populations and sexes (although it is noted that as an X-linked disorder, there are more male patients listed).Created: 19 Jun 2017, 9:52 a.m.
Ellen McDonagh (Genomics England Curator)
Is a confirmed DD gene for Danon disease. For mode of inheritance, G2P suggests hemizygous (biallelic in females) whereas OMIM suggests X-linked dominant.Created: 29 Apr 2016, 7:53 a.m.
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 Green
- Literature
- Phenotypes
-
- Danon disease
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Intellectual disability
- Retinal disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Progressive cardiac conduction disease
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
31 Jul 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
19 Jun 2017, Gel status: 4
Set publications
Olivia Niblock (Genomics England Curator)Publications for LAMP2 were set to 26927810; 27179547; 27497751; 27460667; 27145725; 24691104; 24222494
19 Jun 2017, Gel status: 4
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Apr 2016, Gel status: 0
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene LAMP2 were set to Danon disease
29 Apr 2016, Gel status: 0
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene LAMP2 were set to Danon disease
29 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)LAMP2 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature
29 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)LAMP2 was created by ellenmcdonagh