1. Panels
  2. Research panel - Severe Paediatric Disorders
  3. GNAS
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Research panel - Severe Paediatric Disorders

Gene: GNAS

Green List (high evidence)
GNAS (GNAS complex locus)
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GNAS; Recommended initial gene rating: Green List (high evidence); Phenotypes: ACTH-independent macronodular adrenal hyperplasia, 219080 (3) | Osseous heteroplasia, progressive, 166350 (3) | Pseudohypoparathyroidism Ia, 103580 (3) | Pseudohypoparathyroidism Ib, 603233 (3) | Pseudohypoparathyroidism Ic, 612462 (3) | Pseudopseudohypoparathyroidism, 612463 (3); Mode of inheritance: Somatic mutation | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance
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
OMIM
139320
Clinvar variants
Variants in GNAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GNAS were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pseudopseudohypoparathyroidism, 612463; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ic, 612462; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ib, 603233 for gene: GNAS

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pseudopseudohypoparathyroidism, 612463; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ic, 612462; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ib, 603233 for gene: GNAS

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pseudopseudohypoparathyroidism, 612463; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ic, 612462; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ib, 603233 for gene: GNAS

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pseudohypoparathyroidism Ib, 603233; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ia, 103580; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ic, 612462; Pseudopseudohypoparathyroidism, 612463 for gene: GNAS

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to GNAS.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to GNAS. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GNAS was added gene: GNAS was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GNAS was set to