Clefting disorders
Gene: CHRNG
CHRNG (cholinergic receptor nicotinic gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000196811
EnsemblGeneIds (GRCh37): ENSG00000196811
OMIM: 100730, Gene2Phenotype
CHRNG is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000196811
EnsemblGeneIds (GRCh37): ENSG00000196811
OMIM: 100730, Gene2Phenotype
CHRNG is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
- Phenotypes
-
- PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
- MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE
- Multiple pterygium syndrome, lethal type, 253290
- Escobar syndrome, 265000
- OMIM
- 100730
- Clinvar variants
- Variants in CHRNG
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CHRNG was added gene: CHRNG was added to Clefting_GEL. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNG were set to 16826520; 22167768; 27843868 Phenotypes for gene: CHRNG were set to PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE; MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE; Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000