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BabyScreen+ newborn screening

Gene: CHAT

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Presentation is perinatal.

Treatment: Acetylcholine-esterase inhibitors
Created: 5 Oct 2022, 8:26 a.m. | Last Modified: 5 Oct 2022, 8:26 a.m.
Panel Version: 0.288

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 6, presynaptic, 254210

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

congenital myasthenia syndrome

anti cholinesterase inhibitors partially effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary
Created: 27 Sep 2022, 12:58 p.m. | Last Modified: 27 Sep 2022, 12:58 p.m.
Panel Version: 0.266

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS:BabySeq Category A gene
Phenotypes
  • Congenital myasthenic syndrome, MIM#254210
Tags
treatable neurological
OMIM
118490
Clinvar variants
Variants in CHAT
Penetrance
None
Panels with this gene

History Filter Activity

24 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag neurological tag was added to gene: CHAT.

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chat has been classified as Green List (High Evidence).

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CHAT.

18 Sep 2022, 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 gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHAT were set to Congenital myasthenic syndrome, MIM#254210