ABCC6

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red ABCC6 in Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.15 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 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
Green ABCC6 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) 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 4.89 Latest signed off version: v4.0 (22 Mar 2023)	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