Arthrogryposis
Gene: CHRNG

CHRNG (cholinergic receptor nicotinic gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000196811
EnsemblGeneIds (GRCh37): ENSG00000196811
OMIM: 100730, Gene2Phenotype
CHRNG is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 20 unrelated families reported, with lethal and non-lethal multiple pterygium syndrome. Arthrogryposis is a prominent feature of these conditions.
Created: 13 Jun 2021, 7:24 a.m. | Last Modified: 13 Jun 2021, 7:24 a.m.

Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668

Publications

Created: 13 Jun 2021, 7:24 a.m.
Last Modified: 13 Jun 2021, 7:24 a.m.
Panel version: 0.274

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Escobar syndrome, MIM# 265000
Multiple pterygium syndrome, lethal type, MIM# 253290
MONDO:0009926
MONDO:0009668

OMIM

100730

Clinvar variants

Variants in CHRNG

Penetrance

None

Publications

Panels with this gene