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  3. CHAT
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Arthrogryposis

Gene: CHAT

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

4-5% of congenital myasthenic cases. Can be associated with arthrogryposis
Created: 4 Jan 2017, 10:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 6, presynaptic 254210

Publications

Created: 4 Jan 2017, 10:17 a.m.

Panel version: 1.123

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, associated with episodic apnea, 254210
OMIM
118490
Clinvar variants
Variants in CHAT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for CHAT were set to 20301347; 11172068

4 Jan 2017, Gel status: 3

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for CHAT was changed to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CHAT was added to Arthrogryposispanel. Source: Emory Genetics Laboratory CHAT was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen CHAT was added to Arthrogryposispanel. Source: UKGTN

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CHAT was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CHAT was added to Arthrogryposispanel. Sources: Expert list