Recurrent episodic apnoea
Gene: CHAT

CHAT (choline O-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000070748
EnsemblGeneIds (GRCh37): ENSG00000070748
OMIM: 118490, Gene2Phenotype
CHAT is in 3 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been set to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 2:43 p.m. | Last Modified: 1 Feb 2023, 2:43 p.m.

Panel Version: 0.91

Created: 1 Feb 2023, 2:43 p.m.
Last Modified: 1 Feb 2023, 2:43 p.m.
Panel version: 0.91

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants have been reported (PMIDs: 11172068, 12756141).
Created: 3 Jan 2023, 3:06 p.m. | Last Modified: 3 Jan 2023, 3:06 p.m.

Panel Version: 0.69

Created: 3 Jan 2023, 3:06 p.m.
Last Modified: 3 Jan 2023, 3:06 p.m.
Panel version: 0.69

Eleanor Williams (Genomics England Curator)

Gene added on recommendation of Dr Emma Matthews.
Created: 21 Dec 2022, 2:49 p.m. | Last Modified: 21 Dec 2022, 2:49 p.m.

Panel Version: 0.2

Created: 21 Dec 2022, 2:49 p.m.
Last Modified: 21 Dec 2022, 2:49 p.m.
Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210
congenital myasthenic syndrome 6, MONDO:0009689

OMIM

118490

Clinvar variants

Variants in CHAT

Penetrance

None

Publications

Panels with this gene