CHAT

choline O-acetyltransferase
OMIM: 118490, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CHAT in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 Tags treatable
Green CHAT in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myasthenics syndrome associated with episodic apnea Myasthenic syndrome, congenital, 6, presynaptic, 254210 Tags treatable
Green CHAT 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 Congenital myasthenics syndrome associated with episodic apnea Myasthenic syndrome, congenital, 6, presynaptic, 254210 Tags treatable
Green CHAT in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
Green CHAT 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 CHAT in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myasthenic syndrome, congenital, 6, presynaptic, MIM# 254210 Tags treatable
Green CHAT in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 6, presynaptic 254210
Green CHAT in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
Green CHAT in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS:BabySeq Category A gene Phenotypes Congenital myasthenic syndrome, MIM#254210 Tags treatable neurological
Green CHAT in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)