GNA11

G protein subunit alpha 11
OMIM: 139313, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red GNA11 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.96

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Hypocalcemia, autosomal dominant 2, MIM# 615361

    Green GNA11 in Hypercalcaemia


    Level 2: Endocrine disorders
    Version 1.2

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypocalciuric hypercalcaemia, type II, MIM# 145981
    • MONDO:0007792

    Green GNA11 in Mendeliome


    Version 1.1902

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypocalcemia, autosomal dominant 2 MIM#615361
    • Hypocalciuric hypercalcemia, type II MIM#145981

    Green GNA11 in Calcium and Phosphate disorders


    Level 2: Renal and urinary tract disorders; Endocrine disorders
    Version 1.24

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypocalcemia, autosomal dominant 2 MIM#615361
    • Hypocalciuric hypercalcemia, type II MIM#145981

    Red GNA11 in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.11

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review Other
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Somatic hemangioma
    Tags
    • somatic

    Green GNA11 in Vascular Malformations_Somatic


    Level 2: Cardiovascular disorders
    Version 1.13

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review Other
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Somatic hemangioma
    • Phacomatosis pigmentovascularis, somatic
    Tags
    • somatic

    Green GNA11 in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Extensive dermal melanocytosis
    • Phakomatosis pigmentovascularis
    Tags
    • somatic

    Red GNA11 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Hypocalcemia, autosomal dominant 2 MIM#615361
    • Hypocalciuric hypercalcemia, type II MIM#145981
    • Congenital Haemangioma

    Green GNA11 in Familial hypoparathyroidism

    Level 3: Disorders of calcium homeostasis
    Level 2: Endocrine disorders
    Version 1.3

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • autosomal dominant hypocalcemia MONDO:0018543

    Green GNA11 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypocalciuric hypercalcemia, type II MIM#145981
    • Hypocalcemia, autosomal dominant 2 MIM#615361