1. Genes and Genomic Entities
  2. GNA11

GNA11

G protein subunit alpha 11
OMIM: 139313, Gene2Phenotype

9 panels

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


Level 2: Endocrinology
Version 3.5
Latest signed off version: v3.0 (30 Apr 2025)

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


Level 2: Endocrinology
Version 3.7
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 2: Renal
Version 5.5
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

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


    Level 2: Dermatology
    Version 4.13
    Latest signed off version: v4.0 (30 Apr 2025)

    		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


    Level 2: Dermatology
    Version 3.27
    Latest signed off version: v3.0 (30 Apr 2025)

    		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


    Level 2: Dermatology
    Version 2.5
    Latest signed off version: v2.0 (30 Apr 2025)

    		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 Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Hypocalciuric hypercalcemia, type II, OMIM:145981
    • Hypocalcemia, autosomal dominant 2, OMIM:615361
    Tags
    • mosaicism
    Green GNA11 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

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