| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lysosomal Storage Disorder v0.6 | SUMF1 | Seb Lunke Marked gene: SUMF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.6 | SUMF1 | Seb Lunke Gene: sumf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.6 | SUMF1 | Seb Lunke Classified gene: SUMF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.6 | SUMF1 | Seb Lunke Gene: sumf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.5 | SUMF1 |
Crystle Lee gene: SUMF1 was added gene: SUMF1 was added to Storage Disorder. Sources: Expert Review Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to 17360554; 25885655; 28566233 Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency (MIM#272200) Review for gene: SUMF1 was set to GREEN Added comment: >5 MSD patients reported. This condition is caused by defective activity of all sulfatases, most of them with lysosomal localization. Sources: Expert Review |
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