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| DDG2P v6.17 | SART3 | Achchuthan Shanmugasundram edited their review of gene: SART3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON) are moderate, biallelic_autosomal and loss of function (PMID:37296101). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03514.; Changed phenotypes to: MONDO:0100038, SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.13 | SART3 | Arina Puzriakova Tag gene-checked tag was added to gene: SART3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | SART3 | Achchuthan Shanmugasundram reviewed gene: SART3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37296101; Phenotypes: SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | SART3 |
Achchuthan Shanmugasundram gene: SART3 was added gene: SART3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SART3 were set to 37296101 Phenotypes for gene: SART3 were set to SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON) Mode of pathogenicity for gene: SART3 was set to Other |
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