RAPSN

receptor associated protein of the synapse
OMIM: 601592, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green RAPSN in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 2 MIM# 618388 AChR deficiency fetal akinesia IUGR micrognathia hypokinesia contractures muscular hypotonia feeding difficulties severe respiratory insufficiency history of miscarriage
Green RAPSN in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 2, MIM# 618388
Green RAPSN in Mendeliome Version 1.2302	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 2 (MIM#618388) Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326)
Green RAPSN in Multiple pterygium syndrome_Fetal akinesia sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 2, MIM# 618388
Red RAPSN in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326
Green RAPSN in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.10 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 acute respiratory crises late and early onset Tags SV/CNV founder
Green RAPSN in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fetal akinesia deformation sequence, 208150 (3)
Green RAPSN in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome
Green RAPSN in Fetal anomalies Version 1.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326 Fetal akinesia deformation sequence 2, MIM# 618388
Green RAPSN in Prepair 1000+ Level 2: Screening Version 1.1566	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326 Fetal akinesia deformation sequence 2 MIM#618388
Green RAPSN in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326) Tags treatable neurological
Green RAPSN in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fetal akinesia deformation sequence, 208150 (3)