Activity
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| Paediatric or syndromic cardiomyopathy v1.68 | ISCA-37431-Loss | Arina Puzriakova commented on Region: ISCA-37431-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.68 | ISCA-37431-Loss |
Arina Puzriakova GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008. Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60. |
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| Paediatric or syndromic cardiomyopathy v0.14 | ISCA-37431-Loss | Ivone Leong Classified Region: ISCA-37431-Loss as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.14 | ISCA-37431-Loss | Ivone Leong Added comment: Comment on list classification: Submitted on behalf of the GMS Cardiology specialist group. Demoted from Amber to Red as the group has agreed that this gene should be Red on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.14 | ISCA-37431-Loss | Ivone Leong Region: isca-37431-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.13 | ISCA-37431-Loss | James Eden reviewed Region: ISCA-37431-Loss: Rating: AMBER; Mode of pathogenicity: None; Publications: 14729829, 12180143; Phenotypes: Chromosome 17q11.2 deletion syndrome 1.4Mb, 613675; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.13 | ISCA-37431-Loss |
Ivone Leong Region: ISCA-37431-Loss was added Region: ISCA-37431-Loss was added to Cardiomyopathies - including childhood onset. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NF1 MICRODELETION SYNDROME; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb |
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