ABCC9

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

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Red ABCC9 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • risk of HSCR

Red ABCC9 in Short QT syndrome


Version 2.13
Latest signed off version: v2.4 (20 Aug 2020)

Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • Superpanel_TEST
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • North West GLH
    • 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 1.67

    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

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 2.33
    Latest signed off version: v2.4 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • 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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.85
    Latest signed off version: v2.84 (16 Dec 2021)

    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 1.103

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    Phenotypes
    • Hypertrichotic osteochondrodysplasia, MIM# 239850
    • Cantu syndrome

    Red ABCC9 in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.13
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA

    Red ABCC9 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.23
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • NHS GMS
    Phenotypes
    • hypertrichotic osteochondrodysplasia, Cantu syndrome 239850

    Green ABCC9 in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    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 1.394

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Green ABCC9 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cardiomyopathy, dilated, 10, 608569
    • Atrial fibrillation, familial, 12, 614050
    • Hypertrichotic osteochondrodysplasia, 239850
    • CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA

    Green ABCC9 in Cardiomyopathies - including childhood onset


    Version 1.19
    Latest signed off version: v1.4 (19 Feb 2020)

    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 NOT PMP22 copy number


    Version 1.28
    Latest signed off version: v1.27 (16 Dec 2021)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy

    Green ABCC9 in Severe Paediatric Disorders


    Version 1.66

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cardiomyopathy, dilated, 1O, 608569
    • Hypertrichotic osteochondrodysplasia, 239850
    • Atrial fibrillation, familial, 12, 614050

    Green ABCC9 in NewbornFullV1


    Version 0.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green