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| Dilated Cardiomyopathy and conduction defects v1.55 | LAMP2 | Rebecca Whittington commented on gene: LAMP2: Danon disease OMIM#300257 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.54 | LAMP2 | Rebecca Whittington commented on gene: LAMP2: 90 DM variants on HGMD, some with DCM and HCM: Including in Walsh by Oxford lab - pathogenic truncating variant. DCM: 5 variants, 2 deemed DM. 1 in a patient with DCM no other genetic cause - two unaffected children do not have the variant Kyaw 2018. 1 CNV call as pathogenic. Note: DCM is part of the clinical synopsis: https://omim.org/clinicalSynopsis/300257 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.53 | LAMP2 | Rebecca Whittington reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.47 | LAMP2 |
Ellen McDonagh Source South West GLH was added to LAMP2. Mode of inheritance for gene LAMP2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Dilated Cardiomyopathy and conduction defects v1.46 | LAMP2 | Ellen McDonagh reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.45 | LAMP2 | Ellen McDonagh Source London South GLH was added to LAMP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||