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| Fetal anomalies v1.76 | MBTPS1 | Krithika Murali reviewed gene: MBTPS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4205 | MBTPS1 | Zornitza Stark Marked gene: MBTPS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4205 | MBTPS1 | Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4179 | MBTPS1 | Chirag Patel Classified gene: MBTPS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4179 | MBTPS1 | Chirag Patel Gene: mbtps1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4178 | MBTPS1 |
Chirag Patel gene: MBTPS1 was added gene: MBTPS1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBTPS1 were set to PMID: 32857899; 32420688; 30046013 Phenotypes for gene: MBTPS1 were set to Skeletal dysplasia, no OMIM # Review for gene: MBTPS1 was set to GREEN Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature. Sources: Expert list |
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