Clefting
Gene: CHRNG

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

1 review

Louise Daugherty (Genomics England Curator)

Comment on publications: Escobar syndrome, MIM:265000 : 1 case of clefting in 7 unrelated families . Hoffmann et al. (2006) PMID: 16826520. Multiple pterygium syndrome, lethal type, MIM:253290, PMID: 27843868 1 case. Clefting is noted in Orphanet as being present in 5%-29% of cases. And PMID: 22167768 large study where Cleft palate was identified in 32/84 (38%) of the lethal and 7/54 (13%) of the non-lethal group.
Created: 31 May 2017, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 31 May 2017, 10:17 a.m.

Panel version: 0.281

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Expert list

Phenotypes

Escobar syndrome, 265000
MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE
Multiple pterygium syndrome, lethal type, 253290
PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE

OMIM

100730

Clinvar variants

Variants in CHRNG

Penetrance

Complete

Publications

Panels with this gene