SLC18A3

solute carrier family 18 member A3
OMIM: 600336, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber SLC18A3 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 arthrogryposis
Green SLC18A3 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239
Green SLC18A3 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 ophthalmopleggia and apnea Myasthenic syndrome, congenital, 21, presynaptic, 617239
Green SLC18A3 in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 21, presynaptic OMIM 617239
Amber SLC18A3 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Expert list Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239 Congenital myasthenic syndrome 21, MONDO:0014983
Green SLC18A3 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239 Tags treatable neurological