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| DDG2P v3.12 | SLC26A2 | Achchuthan Shanmugasundram reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18925670, 10482955, 8571951, 7923357, 4644462, 12966518, 10466420, 8528239; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4, OMIM:226900, ACHONDROGENESIS TYPE 1B, OMIM:600972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC26A2 | Achchuthan Shanmugasundram Publications for gene: SLC26A2 were updated from 7923357; 10482955; 10466420; 8571951; 18925670 to 18925670; 10482955; 8571951; 7923357; 4644462; 12966518; 10466420; 8528239 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC26A2 | Rebecca Foulger reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC26A2 |
Rebecca Foulger Added phenotypes DIASTROPHIC DYSPLASIA 222600 for gene: SLC26A2 Publications for gene SLC26A2 were changed from 12966518 to 7923357; 10482955; 10466420; 8571951; 18925670 |
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| DDG2P v0.1 | SLC26A2 |
Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900 for gene: SLC26A2 Publications for gene SLC26A2 were changed from 4644462; 8571951 to 12966518 |
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| DDG2P v0.1 | SLC26A2 |
Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 2 256050 for gene: SLC26A2 Publications for gene SLC26A2 were changed from 8528239 to 4644462; 8571951 |
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| DDG2P v0.1 | SLC26A2 |
Rebecca Foulger gene: SLC26A2 was added gene: SLC26A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A2 were set to 8528239 Phenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B 600972 |
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