| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Craniosynostosis v1.33 | TSHR | Zornitza Stark Marked gene: TSHR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.33 | TSHR | Zornitza Stark Gene: tshr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.33 | TSHR | Zornitza Stark Classified gene: TSHR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.33 | TSHR | Zornitza Stark Gene: tshr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.32 | TSHR |
Krithika Murali changed review comment from: Monoallelic variants associated with hyperthyroidism - de novo GoF variants in particular associated with more severe phenotype including congenital hyperthyroidism. Multiple case reports of postnatal diagnosis of craniosynostosis in the context of advancing bone age. Review summarising phenotypic features - PMID 20138963. CS reported in PMID 30599487; 9589634; 18655531; 16260895; 16960398 ; 11081252; 18528812 Sources: Literature; to: Monoallelic variants associated with hyperthyroidism - de novo GoF variants in particular associated with more severe phenotype including congenital hyperthyroidism. Multiple case reports of postnatal diagnosis of craniosynostosis in the context of advancing bone age. Review summarising phenotypic features - PMID 20138963. CS reported in PMID 30599487; 9589634; 18655531; 16260895; 16960398 ; 11081252; 18528812 Biallelic LoF variants associated with congenital hypothyroidism, CS not a feature. Sources: Literature |
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| Craniosynostosis v1.32 | TSHR |
Krithika Murali gene: TSHR was added gene: TSHR was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TSHR were set to 9589634; 18655531; 10095169; 8981019; 16260895; 16960398; 11081252; 18528812; 30599487; 20138963 Phenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune - MIM#609152; Hyperthyroidism, familial gestational - MIM#603373; Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 Review for gene: TSHR was set to GREEN Added comment: Monoallelic variants associated with hyperthyroidism - de novo GoF variants in particular associated with more severe phenotype including congenital hyperthyroidism. Multiple case reports of postnatal diagnosis of craniosynostosis in the context of advancing bone age. Review summarising phenotypic features - PMID 20138963. CS reported in PMID 30599487; 9589634; 18655531; 16260895; 16960398 ; 11081252; 18528812 Sources: Literature |
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