1. Genes and Genomic Entities
  2. GNAS

GNAS

GNAS complex locus
OMIM: 139320, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels
Red GNAS in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.8

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 1.33

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 1.29

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 2: Endocrinology
Version 5.21
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • 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
Red GNAS in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

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


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

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


    Level 2: Gastrohepatology
    Version 3.19
    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


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

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

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.123

    		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


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

    		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 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    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


    Level 2: Fetal (including NIPD)
    Version 6.138
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    Green GNAS 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
    • 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 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, 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 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Endocrinology
    Version 3.3
    Latest signed off version: v3.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • 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
    Green GNAS in Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis


    Level 2: Endocrinology
    Version 1.10
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Pseudohypoparathyroidism Ia, OMIM:103580
    • Pseudohypoparathyroidism Ib, OMIM:603233
    • Pseudohypoparathyroidism Ic, OMIM:612462
    • Pseudopseudohypoparathyroidism, OMIM:612463
    • pseudohypoparathyroidism type 1A, MONDO:0007078
    • pseudohypoparathyroidism type 1B, MONDO:0011301
    • pseudohypoparathyroidism type 1C, MONDO:0012911
    • pseudopseudohypoparathyroidism, MONDO:0012912