Arthrogryposis
Gene: CHRNG

CHRNG (cholinergic receptor nicotinic gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000196811
EnsemblGeneIds (GRCh37): ENSG00000196811
OMIM: 100730, Gene2Phenotype
CHRNG is in 7 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P
Created: 21 Dec 2016, 1:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Escobar syndrome 265000; Multiple pterygium syndrome, lethal type 253290

Publications

16826520,16826531

Created: 21 Dec 2016, 1:55 p.m.

Panel version: 1.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Expert list

Phenotypes

Escobar syndrome 265000
Multiple pterygium syndrome, lethal type 253290
Myasthenia gravis, neonatal transient (2)

OMIM

100730

Clinvar variants

Variants in CHRNG

Penetrance

Complete

Publications

16826520,16826531

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.

21 Dec 2016, Gel status: 4