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| DDG2P v3.59 | SIX1 | Achchuthan Shanmugasundram Phenotypes for gene: SIX1 were changed from BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389; Non-syndromic craniosynostosis to BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389; Non-syndromic craniosynostosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.59 | SIX1 | Achchuthan Shanmugasundram Phenotypes for gene: SIX1 were changed from BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389; Non-syndromic craniosynostosis to BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389; Non-syndromic craniosynostosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.59 | SIX1 | Achchuthan Shanmugasundram Phenotypes for gene: SIX1 were changed from Non-syndromic craniosynostosis; DEAFNESS AUTOSOMAL DOMINANT TYPE 23 605192; BRANCHIOOTIC SYNDROME TYPE 3 608389 to BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389; Non-syndromic craniosynostosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.58 | SIX1 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: SIX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.58 | SIX1 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10777717;12843324;15141091;17637804). The DDG2P confidence category for the disease Non-syndromic craniosynostosis is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.; to: The DDG2P confidence category for the disease BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10777717;12843324;15141091;17637804). The DDG2P confidence category for the disease Non-syndromic craniosynostosis is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product. |
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| DDG2P v3.12 | SIX1 | Achchuthan Shanmugasundram reviewed gene: SIX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15141091, 10777717, 12843324, 17637804; Phenotypes: BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389, Non-syndromic craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIX1 | Achchuthan Shanmugasundram Publications for gene: SIX1 were updated from 10777717 to 15141091; 12843324; 10777717; 17637804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.85 | SIX1 | Rebecca Foulger Classified gene: SIX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.85 | SIX1 | Rebecca Foulger Gene: six1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | SIX1 | Rebecca Foulger edited their review of gene: SIX1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BRANCHIOOTIC SYNDROME TYPE 3; DEAFNESS AUTOSOMAL DOMINANT TYPE 23.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | SIX1 | Rebecca Foulger commented on gene: SIX1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | SIX1 | Rebecca Foulger Tag watchlist tag was added to gene: SIX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SIX1 | Rebecca Foulger reviewed gene: SIX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SIX1 | Rebecca Foulger Added phenotypes Non-syndromic craniosynostosis for gene: SIX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SIX1 |
Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 23 605192 for gene: SIX1 Publications for gene SIX1 were changed from 12843324; 15141091; 17637804 to 10777717 |
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| DDG2P v0.1 | SIX1 |
Rebecca Foulger gene: SIX1 was added gene: SIX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX1 were set to 12843324; 15141091; 17637804 Phenotypes for gene: SIX1 were set to BRANCHIOOTIC SYNDROME TYPE 3 608389 |
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