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| Leukodystrophy v0.394 | Sarah Milton Copied Region LMNB1 upstream region from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.394 | LMNB1 upstream region |
Sarah Milton Region: LMNB1 upstream region was added Region: LMNB1 upstream region was added to Leukodystrophy. Sources: Literature regulatory region tags were added to Region: LMNB1 upstream region. Mode of inheritance for Region: LMNB1 upstream region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: LMNB1 upstream region were set to PMID: 30842973; 30697589; 25701871 Phenotypes for Region: LMNB1 upstream region were set to Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215 |
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| Leukodystrophy v0.361 | Bryony Thompson Copied gene LMNB1 from panel Leukodystrophy - adult onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.361 | LMNB1 |
Bryony Thompson gene: LMNB1 was added gene: LMNB1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital,Australian Genomcis Health Alliance Leukodystrophy Flagship,Victorian Clinical Genetics Services SV/CNV tags were added to gene: LMNB1. Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNB1 were set to 16951681; 30842973 Phenotypes for gene: LMNB1 were set to Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500; Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061 |
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