Ketotic hypoglycaemia
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
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted to red due to expert review.Created: 8 Jun 2016, 8:43 a.m.
Comment on list classification: Confirmed DD gene for Danon Disease.Created: 6 Apr 2016, 10:02 a.m.
Alexander Broomfield (Central Manchester Foundation Trust)
Does not cause hypoglycaemiaCreated: 20 Oct 2015, 10:26 a.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
- OMIM
- 309060
- Clinvar variants
- Variants in LAMP2
- Penetrance
- Complete
- 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
8 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 Apr 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
19 Oct 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)LAMP2 was added to Ketotic hypoglycaemiapanel. Sources: Emory Genetics Laboratory,UKGTN