ABCC6

ATP binding cassette subfamily C member 6
OMIM: 603234, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Red ABCC6 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

review Unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease
Green ABCC6 in Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.17

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Pseudoxanthoma elasticum 264800 AR
  • Pseudoxanthoma elasticum, forme fruste 177850 AD
Amber ABCC6 in Rare genetic inflammatory skin disorders


Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • PSEUDOXANTHOMA ELASTICUM, OMIM:264800
  • Pseudoxanthoma elasticum, forme fruste, OMIM:177850
Red ABCC6 in Thoracic aortic aneurysm or dissection (GMS)


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • South West GLH
Red ABCC6 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Phenotypes
  • #614473- Arterial calcification, generalized, of infancy, 2
  • #264800- Pseudoxanthoma elasticum
  • #177850- Pseudoxanthoma elasticum, forme fruste
No list ABCC6 in Ehlers Danlos syndrome with a likely monogenic cause

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Pseudoxanthoma elasticum, AR
  • 264800
  • Pseudoxanthoma elasticum, forme fruste, AD
  • 177850
Tags
  • curated_removed
Green ABCC6 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
Green ABCC6 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473
    Red ABCC6 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Pseudoxanthoma elasticum, 264800
    • Pseudoxanthoma elasticum, forme fruste, 177850
    • Arterial calcification, generalized, of infancy, 2, 614473
    Green ABCC6 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • RetNet
    Phenotypes
    • Pseudoxanthoma elasticum, OMIM:264800
    • inherited pseudoxanthoma elasticum, MONDO:0100091
    Green ABCC6 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arterial calcification, generalized, of infancy, 2, 614473
    • Pseudoxanthoma elasticum, 264800
    • Pseudoxanthoma elasticum, forme fruste, 177850
    Green ABCC6 in Generalised arterial calcification in infancy


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Green ABCC6 in Pseudoxanthoma elasticum


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green