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  3. CHRNA1
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Fetal hydrops

Gene: CHRNA1

No list
CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000138435
EnsemblGeneIds (GRCh37): ENSG00000138435
OMIM: 100690, Gene2Phenotype
CHRNA1 is in 5 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Typically presents with cystic hygroma/hydrops.
Sources: Expert list
Created: 30 Dec 2019, 4:47 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

Created: 30 Dec 2019, 4:47 a.m.

Panel version: 1.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Multiple pterygium syndrome, lethal type, MIM#253290
OMIM
100690
Clinvar variants
Variants in CHRNA1
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: CHRNA1 was added gene: CHRNA1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, MIM#253290 Review for gene: CHRNA1 was set to GREEN gene: CHRNA1 was marked as current diagnostic