ABCC6

ATP binding cassette subfamily C member 6
OMIM: 603234, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Amber ABCC6 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Pseudoxanthoma elasticum (MIM# 264800)
Green ABCC6 in Mendeliome Version 2.0	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arterial calcification, generalized, of infancy, 2, MIM# 614473 Pseudoxanthoma elasticum, MIM# 264800 Pseudoxanthoma elasticum, forme fruste, MIM#177850 Tags treatable SV/CNV
Red ABCC6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland
Green ABCC6 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Pseudoxanthoma elasticum, MIM#264800 Tags SV/CNV
Red ABCC6 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Pseudoxanthoma elasticum MIM#264800 Arterial calcification, generalized, of infancy, 2 MIM#614473
Green ABCC6 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pseudoxanthoma elasticum, MIM# 264800 Pseudoxanthoma elasticum, forme fruste, MIM# 177850 Tags SV/CNV
Red ABCC6 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 2.0	4 reviews	Unknown	Sources Expert Review Red Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Moyamoya disease
Green ABCC6 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pseudoxanthoma elasticum Tags SV/CNV
Green ABCC6 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Red Phenotypes Arterial calcification, generalized, of infancy, 2, MIM# 614473 Tags SV/CNV
Red ABCC6 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Pseudoxanthoma elasticum MIM#264800 Arterial calcification, generalized, of infancy, 2 MIM#614473
Green ABCC6 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Arterial calcification, generalized, of infancy, 2, #MIM614473 Tags treatable for review
Green ABCC6 in Facial papules Level 2: Dermatological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925
Green ABCC6 in Nucleotide metabolism disorders Level 2: Metabolic disorders Version 1.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services