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Additional findings_Paediatric

Gene: CHAT

Green List (high evidence)

CHAT (choline O-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000070748
EnsemblGeneIds (GRCh37): ENSG00000070748
OMIM: 118490, Gene2Phenotype
CHAT is in 10 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome
OMIM
118490
Clinvar variants
Variants in CHAT
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Congenital myasthenic syndrome for gene: CHAT

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHAT was added gene: CHAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHAT were set to Congenital myasthenic syndrome