1. Genes and Genomic Entities
  2. GNAS

GNAS

GNAS complex locus
OMIM: 139320, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels
Green GNAS in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Pseudohypoparathyroidism Ia, OMIM:103580
  • Pseudohypoparathyroidism Ib, OMIM:603233
  • Pseudohypoparathyroidism Ic, OMIM:612462
Red GNAS in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.7

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Inherited non-medullary thyroid cancer
Green GNAS in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.32

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • McCune-Albright syndrome, somatic, mosaic, OMIM:174800
  • panostotic fibrous dysplasia, MONDO:0043168
Tags
  • mosaicism
Amber GNAS in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • McCune-Albright syndrome
  • Cholestasis
Green GNAS in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Pseudohypoparathyroidism Ia, OMIM:103580
  • pseudohypoparathyroidism type 1A, MONDO:0007078
  • Pseudohypoparathyroidism Ic, OMIM:612462
  • pseudohypoparathyroidism type 1C, MONDO:0012911
  • Pseudopseudohypoparathyroidism, OMIM:612463
  • pseudopseudohypoparathyroidism, MONDO:0012912
Tags
  • Q4_22_MOI
Red GNAS in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34

review Not set
Sources
  • Emory Genetics Laboratory
Green GNAS in Limb disorders


Version 5.2
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Emory Genetics Laboratory
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Pseudohypoparathyroidism Ia, OMIM:103580
    • pseudohypoparathyroidism type 1A, MONDO:0007078
    • Pseudohypoparathyroidism Ib, OMIM:603233
    • pseudohypoparathyroidism type 1B, MONDO:0011301
    • Pseudohypoparathyroidism Ic, OMIM:612462
    • pseudohypoparathyroidism type 1C, MONDO:0012911
    • McCune-Albright syndrome, somatic, mosaic, OMIM:174800
    • panostotic fibrous dysplasia, MONDO:0043168
    • Osseous heteroplasia, progressive, OMIM:166350
    • ACTH-independent macronodular adrenal hyperplasia. OMIM:219080
    • ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735
    • Pseudopseudohypoparathyroidism, OMIM:612463
    • pseudopseudohypoparathyroidism, MONDO:0012912
    Tags
    • mosaicism
    Amber GNAS in Cholestasis


    Version 3.4
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Other
    • NHS GMS
    • Expert list
    Phenotypes
    • McCune-Albright syndrome
    • Cholestasis
    Red GNAS in Pigmentary skin disorders


    Version 3.12
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    Phenotypes
    • McCune-Albright syndrome
    Tags
    • mosaicism
    • somatic
    Red GNAS in Autism


    Version 0.36

    		review Not set
    Sources
    • Expert Review Red
    • SFARI
    Red GNAS in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.118

    		review Unknown
    Sources
    • Expert Review Red
    • BRIDGE consortium (NIHRBR-RD)
    Phenotypes
    • Acute myeloid leukaemia (AML)
    Tags
    • somatic
    Green GNAS in Mosaic skin disorders - deep sequencing


    Version 2.47
    Latest signed off version: v2.0 (30 Nov 2022)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • McCune-Albright syndrome, somatic, mosaic, OMIM:174800
    • panostotic fibrous dysplasia, MONDO:0043168
    Green GNAS in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Pseudohypoparathyroidism Ia, OMIM:103580
    • pseudohypoparathyroidism type 1A, MONDO:0007078
    • Pseudohypoparathyroidism Ib, OMIM:603233
    • pseudohypoparathyroidism type 1B, MONDO:0011301
    • Pseudohypoparathyroidism Ic, OMIM:612462
    • pseudohypoparathyroidism type 1C, MONDO:0012911
    • McCune-Albright syndrome, somatic, mosaic, OMIM:174800
    • panostotic fibrous dysplasia, MONDO:0043168
    • Osseous heteroplasia, progressive, OMIM:166350
    • ACTH-independent macronodular adrenal hyperplasia. OMIM:219080
    • ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735
    • Pseudopseudohypoparathyroidism, OMIM:612463
    • pseudopseudohypoparathyroidism, MONDO:0012912
    Green GNAS in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Pseudohypoparathyroidism Ia, OMIM:103580
    • pseudohypoparathyroidism type 1A, MONDO:0007078
    • Pseudohypoparathyroidism Ib, OMIM:603233
    • pseudohypoparathyroidism type 1B, MONDO:0011301
    • Pseudohypoparathyroidism Ic, OMIM:612462
    • pseudohypoparathyroidism type 1C, MONDO:0012911
    • McCune-Albright syndrome, somatic, mosaic, OMIM:174800
    • panostotic fibrous dysplasia, MONDO:0043168
    • Osseous heteroplasia, progressive, OMIM:166350
    • progressive osseous heteroplasia, MONDO:0008153
    • ACTH-independent macronodular adrenal hyperplasia. OMIM:219080
    • ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735
    • Pseudopseudohypoparathyroidism, OMIM:612463
    • pseudopseudohypoparathyroidism, MONDO:0012912
    Tags
    • mosaicism
    Green GNAS in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • 103580
    • pseudohypoparathyroidism type 1a 103580
    • pseudohypoparathyroidism type 1a
    Red GNAS in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    Green GNAS in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580
    • MCCUNE-ALBRIGHT SYNDROME, OMIM:174800
    • PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
    Tags
    • mosaicism
    Amber GNAS 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, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Unexplained hyponatremia in infancy, severe early-onset gonadotrophin-independent precocious puberty and skeletal abnormalities.
    Green GNAS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Pseudohypoparathyroidism Ia, OMIM:103580
    • pseudohypoparathyroidism type 1A, MONDO:0007078
    • Pseudohypoparathyroidism Ic, OMIM:612462
    • pseudohypoparathyroidism type 1C, MONDO:0012911
    • Pseudopseudohypoparathyroidism, OMIM:612463
    • pseudopseudohypoparathyroidism, MONDO:0012912
    Tags
    • mosaicism
    Green GNAS in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.18
    Latest signed off version: v2.2 (25 Feb 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Pseudohypoparathyroidism Ia, OMIM:103580
    • pseudohypoparathyroidism type 1A, MONDO:0007078
    • Pseudohypoparathyroidism Ib, OMIM:603233
    • pseudohypoparathyroidism type 1B, MONDO:0011301
    • Pseudohypoparathyroidism Ic, OMIM:612462
    • pseudohypoparathyroidism type 1C, MONDO:0012911
    Tags
    • Q4_22_MOI
    Green GNAS in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pseudopseudohypoparathyroidism, 612463
    • Pseudohypoparathyroidism Ia, 103580
    • Osseous heteroplasia, progressive, 166350
    • Pseudohypoparathyroidism Ic, 612462
    • ACTH-independent macronodular adrenal hyperplasia, 219080
    • Pseudohypoparathyroidism Ib, 603233
    Green GNAS in Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green