Fetal hydrops

Gene: CHRNG

No list

CHRNG (cholinergic receptor nicotinic gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000196811
EnsemblGeneIds (GRCh37): ENSG00000196811
OMIM: 100730, Gene2Phenotype
CHRNG is in 9 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Typically presents with cystic hygroma/hydrops fetalis.
Sources: Expert list
Created: 30 Dec 2019, 5:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple pterygium syndrome, lethal type, MIM#253290

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Multiple pterygium syndrome, lethal type, MIM#253290
OMIM
100730
Clinvar variants
Variants in CHRNG
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: CHRNG was added gene: CHRNG was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNG were set to Multiple pterygium syndrome, lethal type, MIM#253290 Review for gene: CHRNG was set to GREEN gene: CHRNG was marked as current diagnostic