Craniosynostosis

Gene: GNAS

Green List (high evidence)

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Graul-Neumann report a boy with MSS and PHP1A: not clear if CSS due to GNAS or 2nd disorder. Other cases reported but not known if investigated molecularly (Fitch 1982). May be rare complication. Further molecularly proven case in Adetayo J Craniofac Surg 17, plus further 5 unpublished cases with clear pathogenic mutations in Oxford (AW, pers.comm.) ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
pseudohypoparathyroidism type 1a 103580

Publications

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. Andrew Wilkie of Wessex and West Midlands GLH confirmed unpublished cases.
Created: 21 May 2019, 12:29 p.m.
Comment on publications: Graul-Neumann et al 2009 - PMID: 19530187
Twigg et al 2015 - PMID: 26340332
Adetayo et al 2015 - PMID: 26267576
Created: 21 May 2019, 12:27 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GNAS; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Richard Scott (Genomics England Curator)

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Craniosynostosis is rare complication of pseudohypoparathyroidism. Other clinical and biochemical features should be present to make this diagnosis
Created: 15 Sep 2015, 8:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
pseudohypoparathyroidism type 1a

Publications

History Filter Activity

21 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: gnas has been classified as Green List (High Evidence).

21 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: GNAS were set to 19530187; 26340332

21 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: GNAS were set to 19530187; 26340332

21 May 2019, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: gnas has been classified as Red List (Low Evidence).

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes pseudohypoparathyroidism type 1a 103580 for gene: GNAS

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to GNAS.

3 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for GNAS were set to pseudohypoparathyroidism type 1a; 103580

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for GNAS were set to 19530187; 26340332

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Sep 2015, Gel status: 0

Added New Source

Andrew Wilkie (University of Oxford)

GNAS was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review