GUCY1A1

guanylate cyclase 1 soluble subunit alpha 1
OMIM: 139396, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green GUCY1A1 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Moyamoya 6 with achalasia, MIM# 615750

Green GUCY1A1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Moyamoya 6 with achalasia, 615750 (3)

Green GUCY1A1 in Stroke


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Moyamoya 6 with achalasia MIM#615750

Green GUCY1A1 in Cerebral vascular malformations


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Moyamoya 6 with achalasia
  • Moyamoya 6 with achalasia, 615750

Green GUCY1A1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Moyamoya 6 with achalasia, 615750 (3)