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  2. Hydrops fetalis
  3. CHRNE
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Hydrops fetalis

Gene: CHRNE

Red List (low evidence)
CHRNE (cholinergic receptor nicotinic epsilon subunit)
EnsemblGeneIds (GRCh38): ENSG00000108556
EnsemblGeneIds (GRCh37): ENSG00000108556
OMIM: 100725, Gene2Phenotype
CHRNE is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cannot find association with hydrops fetalis.
Created: 30 Dec 2019, 5:02 a.m. | Last Modified: 30 Dec 2019, 5:02 a.m.
Panel Version: 0.49

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndromes

Created: 30 Dec 2019, 5:02 a.m.
Last Modified: 30 Dec 2019, 5:02 a.m.
Panel version: 0.49

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital myasthenic syndromes
OMIM
100725
Clinvar variants
Variants in CHRNE
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrne has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHRNE were changed from to Congenital myasthenic syndromes

30 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHRNE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrne has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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