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Fetal anomalies

Gene: LAMP2

Red List (low evidence)
LAMP2 (lysosomal associated membrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000005893
EnsemblGeneIds (GRCh37): ENSG00000005893
OMIM: 309060, Gene2Phenotype
LAMP2 is in 13 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease) with 'normal acid maltase' or alpha-glucosidase, however, it may be more accurately classified as a lysosomal disorder.

Cardiomyopathy usually develops in the teens, presenting as hypertrophic cardiomyopathy (in 88% of cases of Danon disease) that rapidly progresses to dilated cardiomyopathy. Females often show milder phenotype with later onset of cardiac symptoms.

The youngest reported patient presented at 2 months with a heart murmur and then at 4 months with severe obstructive HCM.
Created: 10 Jan 2022, 4:50 a.m. | Last Modified: 10 Jan 2022, 4:50 a.m.
Panel Version: 0.1933

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
Danon disease (MIM#300257)

Publications

Created: 10 Jan 2022, 4:50 a.m.
Last Modified: 10 Jan 2022, 4:50 a.m.
Panel version: 0.1933

History Filter Activity

13 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamp2 has been classified as Red List (Low Evidence).

13 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMP2 were changed from DANON DISEASE to Danon disease (MIM#300257)

13 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAMP2 were set to

24 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMP2 was added gene: LAMP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: LAMP2 were set to DANON DISEASE