GUCY1A3:Ensemblv90

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

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green GUCY1A3 in Vasculitis


Level 2: Immunological disorders
Version 0.95

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green GUCY1A3 in Mendeliome


Version 1.3802

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

Green GUCY1A3 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.111

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

Green GUCY1A3 in Stroke


Level 2: Neurology and neurodevelopmental disorders
Version 1.38

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 GUCY1A3 in Cerebral vascular malformations


Level 2: Neurology and neurodevelopmental disorders
Version 1.9

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • Vascular Malformations SuperPanel
  • 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 GUCY1A3 in Prepair 1000+


    Level 2: Screening
    Version 2.15

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

    Green GUCY1A3 in Vasculitis


    Level 2: Immunological disorders
    Version 1.0

    0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green GUCY1A3 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

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

    Green GUCY1A3 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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

    Green GUCY1A3 in Prepair 1000+


    Level 2: Screening
    Version 3.0

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