MUSK

muscle associated receptor tyrosine kinase
OMIM: 601296, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green MUSK in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MUSK in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 1, MIM# 208150
Green MUSK in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 1, MIM# 208150 MONDO:0100101 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325 MONDO:0014587
Green MUSK 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 1, MIM# 208150 MONDO:0100101
Green MUSK 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, 9, associated with acetylcholine receptor deficiency, 616325 Tags treatable
Green MUSK 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 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
Green MUSK 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 MUSK in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325
Green MUSK in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fetal akinesia deformation sequence 1, MIM# 208150 MONDO:0100101
Green MUSK in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
Green MUSK in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS:BabySeq Category A gene Phenotypes Congenital myasthenic syndrome, MIM#616325 Tags treatable neurological
Green MUSK in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)