ABCC9

ATP binding cassette subfamily C member 9
OMIM: 601439, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red ABCC9 in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.11	review	Unknown	Sources Expert Review Red Literature Phenotypes risk of HSCR
Red ABCC9 in Short QT syndrome Level 2: Cardiology Version 3.16 Latest signed off version: v3.14 (30 Apr 2025) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Expert Review Red Brugada syndrome (Version 1.7) Literature Phenotypes ventricular tachycardia Atrial fibrillation, familial, 12 (614050) Cardiomyopathy, dilated, 1O (608569) short qt atrial fibrillation
Green ABCC9 in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.97	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Wessex and West Midlands GLH Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Cardiomyopathy, dilated, 1O Cardiomyopathy, dilated, 1O (608569) Atrial fibrillation, familial, 12 (614050) Dilated Cardiomyopathy, Dominant
Red ABCC9 in Brugada syndrome and cardiac sodium channel disease Level 2: Cardiology Version 3.15 Latest signed off version: v3.12 (30 Apr 2025) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH North West GLH Literature Phenotypes Brugada syndrome, MONDO:0015263
Green ABCC9 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome) Hypertrichotic osteochondrodysplasia 239850
No list ABCC9 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Level 2: Growth disorders Version 1.121	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Hypertrichotic osteochondrodysplasia, OMIM:239850 Cantu syndrome
Red ABCC9 in Dilated and arrhythmogenic cardiomyopathy Level 2: Cardiology Version 3.13 Latest signed off version: v3.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red UKGTN South West GLH Radboud University Medical Center, Nijmegen Wessex and West Midlands GLH Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Wessex and West Midlands GLH Phenotypes Cardiomyopathy, dilated, 1O (608569) Dilated Cardiomyopathy, Dominant Cardiomyopathy, dilated, 1O Atrial fibrillation, familial, 12 (614050)
Green ABCC9 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Red ABCC9 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.4 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Phenotypes hypertrichotic osteochondrodysplasia, Cantu syndrome 239850
Green ABCC9 in DDG2P Version 6.426 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850
Red ABCC9 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Green ABCC9 in Intellectual disability Level 2: Developmental disorders Version 9.304 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Intellectual disability and myopathy syndrome, OMIM:619719 intellectual disability and myopathy syndrome, MONDO:0859224
Green ABCC9 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.98 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH Expert Review Green Phenotypes Dilated Cardiomyopathy, Dominant Cardiomyopathy, dilated, 1O
Red ABCC9 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.43 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy