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Prepair 1000+

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

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- updated HGNC symbol: GUCY1A1
- PMID: 36941667: at least 3 individuals reported with severe-early onset of disease, reported variants include missense, frameshift, splice and nonsense variants.
Created: 20 Nov 2024, 1:42 a.m. | Last Modified: 20 Nov 2024, 1:42 a.m.
Panel Version: 1.553

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Moyamoya 6 with achalasia, MIM#615750

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Moyamoya 6 with achalasia, 615750 (3)
OMIM
139396
Clinvar variants
Variants in GUCY1A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: GUCY1A3 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GUCY1A3 was added gene: GUCY1A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia, 615750 (3)