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  3. CHRNA1
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Hydrops fetalis

Gene: CHRNA1

Green List (high evidence)
CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000138435
EnsemblGeneIds (GRCh37): ENSG00000138435
OMIM: 100690, Gene2Phenotype
CHRNA1 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Typically presents with cystic hygroma/hydrops.
Created: 30 Dec 2019, 4:48 a.m. | Last Modified: 30 Dec 2019, 4:48 a.m.
Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple pterygium syndrome, lethal type, MIM# 253290

Created: 30 Dec 2019, 4:48 a.m.
Last Modified: 30 Dec 2019, 4:48 a.m.
Panel version: 0.45

History Filter Activity

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrna1 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: CHRNA1 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: CHRNA1 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: CHRNA1 was added gene: CHRNA1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHRNA1 was set to Unknown