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  2. Hydrops fetalis
  3. CHRNG
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Hydrops fetalis

Gene: CHRNG

Green List (high evidence)
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)

Typically presents with cystic hygroma/hydrops fetalis.
Created: 30 Dec 2019, 5:08 a.m. | Last Modified: 30 Dec 2019, 5:08 a.m.
Panel Version: 0.54
Typically presents with cystic hygroma/hydrops fetalis.
Created: 30 Dec 2019, 5:06 a.m. | Last Modified: 30 Dec 2019, 5:06 a.m.
Panel Version: 0.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple pterygium syndrome, lethal type, MIM# 253290

Created: 30 Dec 2019, 5:06 a.m.
Last Modified: 30 Dec 2019, 5:06 a.m.
Panel version: 0.54

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrng has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHRNG were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290

30 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHRNG was added gene: CHRNG was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHRNG was set to Unknown