Activity
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| DDG2P v6.330 | SASS6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SASS6 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SASS6 | Achchuthan Shanmugasundram edited their review of gene: SASS6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SASS6-related severe microcephaly with brain abnormalities are moderate, biallelic_autosomal and undetermined (PMIDs: 24951542, 30639237, 36739862, 38501757). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03564.; Changed publications to: 24951542, 38501757, 36739862, 30639237; Changed phenotypes to: MONDO:0014623, SASS6-related severe microcephaly with brain abnormalities, OMIM:616402.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | SASS6 | Achchuthan Shanmugasundram reviewed gene: SASS6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38501757, 24951542, 30639237, 36739862; Phenotypes: SASS6-related severe microcephaly with brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | SASS6 |
Achchuthan Shanmugasundram gene: SASS6 was added gene: SASS6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SASS6 were set to 38501757; 24951542; 30639237; 36739862 Phenotypes for gene: SASS6 were set to SASS6-related severe microcephaly with brain abnormalities Mode of pathogenicity for gene: SASS6 was set to Other |
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