ABCC6

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

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red ABCC6 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.8
Latest signed off version: v2.2 (2 Mar 2020)

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 1.10

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 1.38
Latest signed off version: v1.6 (15 Oct 2020)

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 and dissection


Version 1.3
Latest signed off version: v1.2 (19 Feb 2020)

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 1.112

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 syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 2.57
Latest signed off version: v2.3 (4 Mar 2020)

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

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

Green ABCC6 in DDG2P


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

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 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 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

    Amber ABCC6 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.173
    Latest signed off version: v2.7 (25 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Phenotypes
    • Pseudoxanthoma elasticum, OMIM:264800
    • inherited pseudoxanthoma elasticum, MONDO:0100091
    Tags
    • for-review

    Green ABCC6 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
    • Arterial calcification, generalized, of infancy, 2, 614473
    • Pseudoxanthoma elasticum, 264800
    • Pseudoxanthoma elasticum, forme fruste, 177850

    Green ABCC6 in NewbornFullV1


    Version 0.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green