MUSK

muscle associated receptor tyrosine kinase
OMIM: 601296, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green MUSK in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.427 Component of the following Super Panels: Neuromuscular Superpanel	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MUSK in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.328	1 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 1.3512	1 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	1 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 1.18 Component of the following Super Panels: Neuromuscular Superpanel	1 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 0.110	0 reviews	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	0 reviews	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 1.10	1 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 1.465	2 reviews	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 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fetal akinesia deformation sequence 1 MIM#208150 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325
Green MUSK in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fetal akinesia deformation sequence 1 MIM#208150 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325
Amber MUSK in Infertility and Recurrent Pregnancy Loss Version 1.50	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Fetal akinesia deformation sequence 1, MIM# 208150