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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 10 May 2022, 3:08 a.m. | Last Modified: 10 May 2022, 3:08 a.m.
Panel Version: 0.14013

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Moyamoya 6 with achalasia, MIM# 615750

Publications

Details

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

History Filter Activity

10 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GUCY1A3 were changed from to Moyamoya 6 with achalasia, MIM# 615750

10 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GUCY1A3 were set to

10 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GUCY1A3 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: GUCY1A3 was added gene: GUCY1A3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GUCY1A3 was set to Unknown