Activity
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5 actions
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| Leukodystrophy - paediatric v0.243 | ABCC9 | Zornitza Stark Marked gene: ABCC9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.243 | ABCC9 | Zornitza Stark Gene: abcc9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.243 | ABCC9 | Zornitza Stark Classified gene: ABCC9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.243 | ABCC9 | Zornitza Stark Gene: abcc9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.242 | ABCC9 |
Zornitza Stark gene: ABCC9 was added gene: ABCC9 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: ABCC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCC9 were set to 31575858 Phenotypes for gene: ABCC9 were set to Intellectual disability and myopathy syndrome, MIM# 619719 Review for gene: ABCC9 was set to AMBER Added comment: PMID 31575858: Report of 6 cases from 2 families, all with homozygous c.1320+1G>A. Phenotype of mild ID, similar facies, myopathy, cerebral white matter hyperintensities, and cardiac systolic dysfunction in the oldest cases. 'This mutation results in an in-frame deletion of exon 8, which results in non-functional KATP channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing KATP channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function ABCC9 mutations, reflecting the opposing consequences of KATP loss- versus gain-of-function'. Sources: Literature |
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