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| Common deletion and duplication syndromes v0.135 | ISCA-37442-Gain | Zornitza Stark Marked Region: ISCA-37442-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.135 | ISCA-37442-Gain | Zornitza Stark Region: isca-37442-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.135 | ISCA-37442-Gain | Zornitza Stark Classified Region: ISCA-37442-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.135 | ISCA-37442-Gain | Zornitza Stark Region: isca-37442-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.134 | ISCA-37442-Gain |
Zornitza Stark Region: ISCA-37442-Gain was added Region: ISCA-37442-Gain was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37442-Gain. Mode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37442-Gain were set to 8842729 Phenotypes for Region: ISCA-37442-Gain were set to Diabetes mellitus, transient neonatal 1, MIM# 601410 Review for Region: ISCA-37442-Gain was set to GREEN Added comment: Transient neonatal diabetes mellitus-1 (TNDM1; '6q diabetes') is caused by overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains PLAGL1. Three genetic mechanisms had been shown to result in TNDM: paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, and a methylation defect at a CpG island overlapping exon 1 of ZAC/HYMAI (promoter of PLAGL1). Note that over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Sources: Expert list |
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