ACVR1

activin A receptor type 1
OMIM: 102576, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ACVR1 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.96 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Fibrodysplasia ossificans progressiva, MIM# 135100
Green ACVR1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital heart disease, MONDO:0005453
Green ACVR1 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fibrodysplasia ossificans progressiva, MIM# 135100 Congenital heart disease Tags clinical trial
Green ACVR1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Fibrodysplasia ossificans progressiva 135100 Tags clinical trial
Green ACVR1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Fibrodysplasia ossificans progressiva
Green ACVR1 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Fibrodysplasia ossificans progressiva 135100 Tags clinical trial
Green ACVR1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Fibrodysplasia ossificans progressiva, MIM# 135100 Congenital heart disease Tags clinical trial
Red ACVR1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Fibrodysplasia ossificans progressiva, MIM# 135100 Tags for review clinical trial