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Rare syndromic craniosynostosis or isolated multisuture synostosis v6.4 GNAS Eleanor Williams commented on gene: GNAS: The mode of inheritance of this gene should ideally be set to both MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) AND MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) since the gene has both paternally and maternally imprinted transcripts. However, this is not currently possible in PanelApp.

With the current mode of inheritance of MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown variants in imprinted transcripts will only be tiered under the 'incomplete penetrance' mode.

We are currently looking at the best options for updating the mode of inheritance to cover the maternal and paternal imprinting seen in this gene.
Rare syndromic craniosynostosis or isolated multisuture synostosis v6.2 GNAS Ida Ertmanska reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 41307550; Phenotypes: ; Mode of inheritance: None
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.103 GNAS Eleanor Williams Classified gene: GNAS as Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.103 GNAS Eleanor Williams Added comment: 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 Andrew Wilkie of Wessex and West Midlands GLH confirmed unpublished cases.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.103 GNAS Eleanor Williams Gene: gnas has been classified as Green List (High Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.102 GNAS Eleanor Williams Deleted their comment
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.102 GNAS Eleanor Williams Publications for gene: GNAS were set to 19530187; 26340332
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.101 GNAS Eleanor Williams Added comment: Comment on publications: Graul-Neumann et al 2009 - PMID: 19530187
Twigg et al 2015 - PMID: 26340332
Adetayo et al 2015 - PMID: 26267576
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.101 GNAS Eleanor Williams Publications for gene: GNAS were set to 19530187; 26340332
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.100 GNAS Eleanor Williams Classified gene: GNAS as Red List (low evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.100 GNAS Eleanor Williams Added comment: 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 several unpublished cases.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.100 GNAS Eleanor Williams Gene: gnas has been classified as Red List (Low Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 GNAS Eleanor Williams Added phenotypes pseudohypoparathyroidism type 1a 103580 for gene: GNAS
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 GNAS Tracy Lester reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19530187, 26340332; Phenotypes: pseudohypoparathyroidism type 1a 103580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 GNAS Eleanor Williams reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 GNAS Eleanor Williams Source NHS GMS was added to GNAS.