SLC18A3

solute carrier family 18 member A3
OMIM: 600336, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber SLC18A3 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 arthrogryposis
Green SLC18A3 in Mendeliome Version 1.2302	1 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	1 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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 21, presynaptic OMIM 617239
Amber SLC18A3 in Fetal anomalies Version 1.313	1 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 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239 Tags treatable neurological