ABCC9

ATP binding cassette subfamily C member 9
OMIM: 601439, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ABCC9 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.151	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ABCC9 in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome Intellectual disability and myopathy syndrome, MIM# 619719
Green ABCC9 in Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Version 1.16	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome
Green ABCC9 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability and myopathy syndrome, MIM# 619719 Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome
Green ABCC9 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome) Hypertrichotic osteochondrodysplasia 239850
Amber ABCC9 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.333 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability and myopathy syndrome, MIM# 619719
Green ABCC9 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.207	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH NHS GMS Phenotypes Hypertrichotic osteochondrodysplasia (Cantu syndrome), MIM# 239850 Cardiomyopathy, dilated, 1O Dilated Cardiomyopathy, Dominant
Red ABCC9 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene BabySeq Category B gene BabySeq Category A gene Phenotypes Atrial fibrillation, familial Cardiomyopathy, dilated Hypertrichotic osteochondrodysplasia
Green ABCC9 in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypertrichotic osteochondrodysplasia, MIM# 239850
Red ABCC9 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BabySeq Category A gene Expert Review Red BabySeq Category B gene Phenotypes Atrial fibrillation, familial Cardiomyopathy, dilated Hypertrichotic osteochondrodysplasia