Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: GNAS
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 Further molecularly proven case in Adetayo J Craniofac Surg 17, plus further 5 unpublished cases with clear pathogenic mutations in Oxford (AW, pers.comm.)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 WilkieCreated: 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
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 Andrew Wilkie of Wessex and West Midlands GLH confirmed unpublished cases.Created: 21 May 2019, 12:29 p.m.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: 26267576Created: 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: greenCreated: 5 Mar 2019, 11:21 a.m.
Craniosynostosis is rare complication of pseudohypoparathyroidism. Other clinical and biochemical features should be present to make this diagnosisCreated: 15 Sep 2015, 8:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
pseudohypoparathyroidism type 1a
Publications
Gene: gnas has been classified as Green List (High Evidence).
Publications for gene: GNAS were set to 19530187; 26340332
Publications for gene: GNAS were set to 19530187; 26340332
Gene: gnas has been classified as Red List (Low Evidence).
Added phenotypes pseudohypoparathyroidism type 1a 103580 for gene: GNAS
Source NHS GMS was added to GNAS.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for GNAS were set to pseudohypoparathyroidism type 1a; 103580
Publications for GNAS were set to 19530187; 26340332
This gene has been classified as Green List (High Evidence).
GNAS was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review