Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: TGFBR1
Some patients have craniofacial involvement including CSS ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 1 - 609192
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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: TGFBR1; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Craniosynostosis occurs in approx. 10% cases. Mutations are localised missense changes associated with increased TGFbeta signalling. Diagnosis should only be made in presence of recognised mutation type and other features of Loeys-Dietz syndrome.Created: 15 Sep 2015, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Loeys-Dietz syndrome 1 609192 for gene: TGFBR1
Source NHS GMS was added to TGFBR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for TGFBR1 were set to 609192
This gene has been classified as Green List (High Evidence).
Publications for TGFBR1 were set to 15731757
Mode of pathogenicity for TGFBR1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for TGFBR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
TGFBR1 was added to Craniosynostosis syndromespanel. Sources: Expert list