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| DDG2P v3.12 | SMAD6 | Achchuthan Shanmugasundram reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: ; Publications: 27606499, 28808027; Phenotypes: Non-syndromic craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.44 | SMAD6 | Rebecca Foulger Classified gene: SMAD6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.44 | SMAD6 | Rebecca Foulger Added comment: Comment on list classification: Updated rating of SMAD6 from Amber to Red following a rating change in DD-G2P (DD-G2P panel downloaded May 9th 2019). The original DDG2P Disease confidence of 'probable' was replaced with a new Disease confidence of 'possible' for Non-syndromic craniosynostosis. Mode of inheritance remains as: monoallelic. Mode of pathogenicity/mutation consequence remains as: loss of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.44 | SMAD6 | Rebecca Foulger Gene: smad6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMAD6 | Rebecca Foulger reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMAD6 |
Rebecca Foulger gene: SMAD6 was added gene: SMAD6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMAD6 were set to 27606499; 28808027 Phenotypes for gene: SMAD6 were set to Non-syndromic craniosynostosis |
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