MUSK

muscle associated receptor tyrosine kinase
OMIM: 601296, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
No list MUSK in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Fetal akinesia deformation sequence 1, MIM# 208150
Green MUSK in Arthrogryposis Level 2: Neurology Version 10.5 Latest signed off version: v10.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen 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 2: Neurology Version 6.1 Latest signed off version: v6.0 (6 May 2026) 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 Level 2: Fetal (including NIPD) Version 7.8 Latest signed off version: v7.0 (6 May 2026)	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