Retinal disorders
Gene: LAMP2
The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 10:23 a.m. | Last Modified: 10 Oct 2023, 10:23 a.m.
Panel Version: 4.34
Comment on list classification: As reviewed by Siying Lin (Moorfields Eye Hospital), there is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.Created: 15 May 2023, 6:05 p.m. | Last Modified: 15 May 2023, 6:05 p.m.
Panel Version: 4.8
PMID:16751040 - Four affected females presented with a peripheral pigmentary retinopathy and two affected males presented with a near-complete loss of pigment in the retinal pigment epithelium.
PMID:22290069 - Two siblings with Danon disease and variant in LAMP2 (p.Gly384Arg) had no ocular phenotypes, while a third sibling and a cousin developed cone-rod dystrophy leading to legal blindness.
PMID:26398689 - Four members from a family with Danon disease identified with variant in LAMP2 (c.294G > A) had low electrooculogram voltages, which indicate that the retinal pigment epithelium is unable to maintain its tight junctions.
PMID:32533651 - 10 patients with Danon disease (3 males, 7 females) identified with variant in LAMP2 and manifested with cardiomyopathy had pigmentary retinopathy with altered autofluorescence and diffuse visual field loss.
PMID:32890081 - A 26-year-old woman with Danon disease had outer retinal degeneration, such as thinning of both the photoreceptor and retinal pigment epithelium layers at the fovea.
PMID:36288619 - Three cases from two unrelated families diagnosed with Danon disease and identified with LAMP2 variant were reported with a stereotypical pattern of primary retinal pigment epithelial or parallel retinal pigment epithelial & photoreceptor disease.
This gene has been associated with Danon disease in both OMIM (MIM #300257) and Gene2Phenotype and retinal phenotypes have been documented as part of Danon disease in OMIM.Created: 15 May 2023, 6:04 p.m. | Last Modified: 15 May 2023, 6:04 p.m.
Panel Version: 4.7
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, OMIM:300257
Publications
Several reports in literature identifying pigmentary retinopathy as part of the phenotypic spectrum in patients with Danon disease (female carriers less severely affected)
Sources: LiteratureCreated: 8 May 2023, 10:39 p.m.
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
Pigmentary retinopathy
Publications
Mode of pathogenicity
Other
Tag Q2_23_promote_green was removed from gene: LAMP2. Tag Q2_23_NHS_review was removed from gene: LAMP2.
Source Expert Review Green was added to LAMP2. Source NHS GMS was added to LAMP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_NHS_review tag was added to gene: LAMP2.
Tag Q2_23_promote_green tag was added to gene: LAMP2.
Phenotypes for gene: LAMP2 were changed from Pigmentary retinopathy to Pigmentary retinopathy; Danon disease, OMIM:300257
Publications for gene: LAMP2 were set to (PMID: 16751040; 32533651; 36288619; 22290069; 32890081; 26398689)
Gene: lamp2 has been classified as Amber List (Moderate Evidence).
gene: LAMP2 was added gene: LAMP2 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAMP2 were set to (PMID: 16751040; 32533651; 36288619; 22290069; 32890081; 26398689) Phenotypes for gene: LAMP2 were set to Pigmentary retinopathy Mode of pathogenicity for gene: LAMP2 was set to Other Review for gene: LAMP2 was set to GREEN