GNA11

G protein subunit alpha 11
OMIM: 139313, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green GNA11 in Familial hypoparathyroidism

Level 3: Disorders of calcium homeostasis
Level 2: Endocrine disorders
Version 2.13
Latest signed off version: v2.2 (25 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Hypocalcemia, autosomal dominant 2, 615361
  • hypercalcemia, type II, 145981
Green GNA11 in Familial hyperparathyroidism or hypocalciuric hypercalcaemia


Version 3.6
Latest signed off version: v3.2 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypocalcemia, autosomal dominant 2, OMIM:615361
  • Hypocalciuric hypercalcemia, type II, OMIM:145981
Red GNA11 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hypocalciuric hypercalcemia, type II, 145981
    Red GNA11 in Pigmentary skin disorders


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    Phenotypes
    • Extensive dermal melanocytosis
    • Phakomatosis pigmentovascularis
    Green GNA11 in Mosaic skin disorders - deep sequencing


    Version 2.41
    Latest signed off version: v2.0 (30 Nov 2022)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Phakomatosis pigmentovascularis
    • Extensive dermal melanocytosis
    No list GNA11 in Vascular skin disorders


    Version 1.54
    Latest signed off version: v1.3 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Phakomatosis pigmentovascularis
    • Extensive dermal melanocytosis
    Tags
    • curated_removed
    Amber GNA11 in Unexplained young onset end-stage renal disease


    Version 3.38
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Hypocalcemia, autosomal dominant 2 615361
    Tags
    • Q4_23_promote_green
    Amber GNA11 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Congenital Hemangioma
    Tags
    • mosaicism
    Green GNA11 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Congenital Hemangioma
    Tags
    • mosaicism
    Green GNA11 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hypocalcemia, autosomal dominant 2 615361