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  3. GUCY1A3
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Stroke

Gene: GUCY1A3

Green List (high evidence)
GUCY1A3 (guanylate cyclase 1 soluble subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000164116
EnsemblGeneIds (GRCh37): ENSG00000164116
OMIM: 139396, Gene2Phenotype
GUCY1A3 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ischaemic stroke has been reported in at least one individual from five families.
Sources: Literature
Created: 11 May 2020, 10:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Moyamoya 6 with achalasia MIM#615750

Publications

Created: 11 May 2020, 10:56 p.m.

Panel version: 0.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Moyamoya 6 with achalasia MIM#615750
OMIM
139396
Clinvar variants
Variants in GUCY1A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gucy1a3 has been classified as Green List (High Evidence).

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gucy1a3 has been classified as Green List (High Evidence).

11 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GUCY1A3 was added gene: GUCY1A3 was added to Stroke. Sources: Literature Mode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUCY1A3 were set to 24581742; 26777256 Phenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia MIM#615750 Review for gene: GUCY1A3 was set to GREEN