Cerebral vascular malformations
Gene: GUCY1A3

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

New HGNC approved gene name - GUCY1A1

Variants reported in >3 unrelated families with vascular malformations.
Classified as green on panel app UK
Created: 18 Nov 2024, 1 a.m. | Last Modified: 18 Nov 2024, 1 a.m.

Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Moyamoya disease with early-onset achalasia MONDO:0014331

Publications

Created: 18 Nov 2024, 1 a.m.
Last Modified: 18 Nov 2024, 1 a.m.
Panel version: 0.39

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Genomics England PanelApp
Expert Review Green

Phenotypes

Moyamoya 6 with achalasia
Moyamoya 6 with achalasia, 615750

OMIM

139396

Clinvar variants

Variants in GUCY1A3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GUCY1A3 was added gene: GUCY1A3 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp 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; Moyamoya 6 with achalasia, 615750

Cerebral vascular malformations Gene: GUCY1A3