Intellectual disability syndromic and non-syndromic
Gene: LAMP2

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

XLD. Gene encodes lysosome-associated membrane protein-2.
Well established gene-disease association.

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.
Created: 8 Sep 2024, 1:56 a.m. | Last Modified: 8 Sep 2024, 1:56 a.m.

Panel Version: 0.6188

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; MONDO:0010281

Publications

PubMed: 10972294

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Sep 2024, 1:56 a.m.
Last Modified: 8 Sep 2024, 1:56 a.m.
Panel version: 0.6188

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
Genetic Health Queensland

Phenotypes

Danon disease, MIM# 300257
MONDO:0010281

OMIM

309060

Clinvar variants

Variants in LAMP2

Penetrance

None

Publications

10972294

Panels with this gene