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Moyamoya disease

Gene: GUCY1A3

Red List (low evidence)
GUCY1A3 (guanylate cyclase 1 soluble subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000164116
EnsemblGeneIds (GRCh37): ENSG00000164116
OMIM: 139396, Gene2Phenotype
GUCY1A3 is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new HGNC approved gene symbol for GUCY1A31 is GUCY1A1
Created: 9 May 2019, 3:37 p.m.
Created: 9 May 2019, 3:37 p.m.

Panel version: 0.34

Ellen McDonagh (Genomics England Curator)

Sourced from OMIM.
Created: 8 Jan 2016, 2:05 p.m.
Created: 8 Jan 2016, 2:05 p.m.

Panel version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Other
Phenotypes
  • Moyamoya 6 with achalasia
  • Moyamoya 6 with achalasia, 615750
Tags
new-gene-name
OMIM
139396
Clinvar variants
Variants in GUCY1A3
Penetrance
Complete
Panels with this gene

History Filter Activity

9 May 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: GUCY1A3.

1 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GUCY1A3 was added to Moyamoya diseasepanel. Source: Radboud University Medical Center, Nijmegen

30 Mar 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GUCY1A3 was added to Moyamoya diseasepanel. Source: Expert list

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GUCY1A3 was created by ellenmcdonagh

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GUCY1A3 was added to Moyamoya diseasepanel. Sources: Other