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| Cardiomyopathy_Paediatric v0.131 | LMOD2 | Seb Lunke Marked gene: LMOD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.131 | LMOD2 | Seb Lunke Gene: lmod2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.131 | LMOD2 | Seb Lunke Classified gene: LMOD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.131 | LMOD2 | Seb Lunke Gene: lmod2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.130 | LMOD2 |
Melanie Marty gene: LMOD2 was added gene: LMOD2 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD2 were set to 31517052; 34888509; 5082396; 35188328; 26487682 Phenotypes for gene: LMOD2 were set to Dilated cardiomyopathy MONDO:0005021 Review for gene: LMOD2 was set to GREEN Added comment: 4 unrelated families with early onset dilated cardiomyopathy, autosomal recessive inheritance, functional studies showing loss of protein and a mouse model reported. PMID: 31517052 1 x neonate with DCM, homozygous nonsense variant identified. PMID: 34888509 2 x neonatal deaths (from 1 family) related to dilated cardiomyopathy (DCM), compound heterozygous loss-of-function variants identified. PMID:35082396 2 x siblings with DCM who died shortly after birth due to heart failure, homozygous canonical splice variant identified. Functional studies show loss of donor site and loss of protein. PMID: 35188328 1 x child (9 months) with DCM, with homozygous frameshift variant. Functional studies showed absence of LMOD2 protein (western blot). PMID: 26487682 Lmod2 null (knockout) mice present with short cardiac thin filaments and die at ~3 weeks due to dysfunctional, dilated hearts Sources: Literature |
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