Neuromuscular arthrogryposis

Gene: CHAT

Amber List (moderate evidence)

CHAT (choline O-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000070748
EnsemblGeneIds (GRCh37): ENSG00000070748
OMIM: 118490, Gene2Phenotype
CHAT is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 28 Apr 2019, 6:36 p.m.

Michael Oldridge (NHS)

I don't know

one patient
Created: 28 Apr 2019, 6:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
arthrogryposis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • arthrogryposis
OMIM
118490
Clinvar variants
Variants in CHAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CHAT.

28 Apr 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to CHAT. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

28 Apr 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: CHAT was added gene: CHAT was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHAT were set to 29189923 Phenotypes for gene: CHAT were set to arthrogryposis