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Limb 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

3 reviews

Helen Brittain (Genomics England Curator)

Comment on mode of inheritance: For the phenotype pseudohypoparathyroidism, monoallelic and imprinted is the appropriate mode of inheritance as indicated. For the phenotype of McCune Albright syndrome, which includes polyostotic fibrous dysplasia, the mechanism is a post-zygotic variant leading to a somatic mosaic picture. The mode of inheritance is therefore still best matched to monoallelic, however depending on the level of mosaicism in the tissue tested, the proportion of alleles with the variant could vary considerably (from 0-50%) and therefore the ability to detect it.
Created: 11 Jul 2017, 4:16 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:36 a.m.
Comment on mode of inheritance: All monogenic except for ACTH-independent macronodular adrenal hyperplasia 219080 (isolated cases) & McCune-Albright syndrome, 174800 (somatic mosaic)
Created: 7 Jul 2016, 11:13 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 12:49 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
Other - please specify in evaluation comments

Phenotypes
ACTH-independent macronodular adrenal hyperplasia 219080 IC ; McCune-Albright syndrome, somatic, mosaic 174800 ; Osseous heteroplasia, progressive 166350; Pseudohypoparathyroidism Ia 103580; Pseudohypoparathyroidism Ib 603233; Pseudohypoparathyroidism Ic 612462; Pseudopseudohypoparathyroidism 612463

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • ACTH-independent macronodular adrenal hyperplasia 219080 IC
  • McCune-Albright syndrome, somatic, mosaic 174800
  • Osseous heteroplasia, progressive 166350
  • Pseudohypoparathyroidism Ia 103580
  • Pseudohypoparathyroidism Ib 603233
  • Pseudohypoparathyroidism Ic 612462
  • Pseudopseudohypoparathyroidism 612463
OMIM
139320
Clinvar variants
Variants in GNAS
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to GNAS. Panel: Limb disorders Emory Genetics Laboratory was added to GNAS. Panel: Limb disorders Model of inheritance for gene GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to GNAS. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GNAS was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

GNAS was created by Ellen McDonagh