ABCC6

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red ABCC6 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	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 1.18	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 Level 2: Dermatology Version 4.18 Latest signed off version: v4.0 (30 Apr 2025)	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) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	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 1.129	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 2: Musculoskeletal Version 4.8 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Fetal (including NIPD) Version 6.186 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
Green ABCC6 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Developmental disorders Version 9.375 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 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 2: Ophthalmology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025)	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 Generalised arterial calcification in infancy Level 2: Cardiology Version 1.4 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Arterial calcification, generalized, of infancy, 2, OMIM:614473 arterial calcification, generalized, of infancy, 2, MONDO:0013768
Green ABCC6 in Pseudoxanthoma elasticum Level 2: Ophthalmology Version 1.4 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Pseudoxanthoma elasticum, OMIM:264800 autosomal recessive inherited pseudoxanthoma elasticum, MONDO:0009925