| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_IsolatedAndComplex v1.184 | LMNA | Zornitza Stark Marked gene: LMNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.184 | LMNA | Zornitza Stark Gene: lmna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.184 | LMNA | Zornitza Stark Classified gene: LMNA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.184 | LMNA | Zornitza Stark Gene: lmna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.183 | LMNA |
Rylee Peters gene: LMNA was added gene: LMNA was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNA were set to PMID: 32913962 Phenotypes for gene: LMNA were set to Laminopathy (MONDO#0021106), LMNA-related Review for gene: LMNA was set to GREEN Added comment: PMID: 32913962; Total of 13 individuals heterozygous for the R349W variant. Recurrent phenotypes in these individuals include partial lipodystrophy, proteinuric nephropathy, cardiopathies and sensorineural hearing impairment. Hearing impairment was identified in 66% of the patients (6/9 individuals, 4 were not reported) and ranged from reduction or complete sensorineural deafness. Sources: Literature |
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