MUSK

muscle associated receptor tyrosine kinase
OMIM: 601296, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
No list MUSK in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Fetal akinesia deformation sequence 1, MIM# 208150
Green MUSK in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital Myasthenic Syndrome, Recessive Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 Congenital myasthenic syndrome
Green MUSK in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert list Phenotypes Fetal akinesia deformation sequence 208150 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325
Green MUSK in Congenital myaesthenic syndrome Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325 Tags deletions
Green MUSK in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Fetal akinesia deformation sequence Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
Green MUSK in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Fetal akinesia deformation sequence 1, 208150 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325