Test panel testing 2020-07-27
Gene: ABCC9EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels
2 reviews
Reviewer Test (GenomicsEnglandTesting)
adding a review as a reviewerCreated: 27 Jul 2020, 11:25 a.m. | Last Modified: 27 Jul 2020, 11:25 a.m.
Panel Version: 0.9
Eleanor Williams (Genomics England Curator)
Test gene for rating change through uploads
Sources: Expert listCreated: 27 Jul 2020, 10:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- NHS GMS
- Expert list
- Phenotypes
-
- hypertrichotic osteochondrodysplasia - 239850 (Cantu syndrome)
- OMIM
- 601439
- Clinvar variants
- Variants in ABCC9
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Skeletal dysplasia
- Dilated Cardiomyopathy and conduction defects
- Short QT syndrome
- Familial Hirschsprung Disease
- Hereditary neuropathy
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Brugada syndrome and cardiac sodium channel disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Added New Source, Set Phenotypes, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to ABCC9. Added phenotypes hypertrichotic osteochondrodysplasia - 239850 (Cantu syndrome) for gene: ABCC9 Rating Changed from Red List (low evidence) to No List (delete)
Added New Source, Set Phenotypes, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to ABCC9. Added phenotypes hypertrichotic osteochondrodysplasia - 239850 (Cantu syndrome) for gene: ABCC9 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Added New Source, Set Phenotypes, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Amber was added to ABCC9. Added phenotypes hypertrichotic osteochondrodysplasia - 239850 (Cantu syndrome) for gene: ABCC9 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source, Added New Source, Set Phenotypes, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ABCC9. Source Expert Review Green was added to ABCC9. Added phenotypes hypertrichotic osteochondrodysplasia - 239850 (Cantu syndrome) for gene: ABCC9 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: ABCC9 was added gene: ABCC9 was added to Test panel testing 2020-07-27. Sources: Expert list Mode of inheritance for gene: ABCC9 was set to BIALLELIC, autosomal or pseudoautosomal