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| BabyScreen+ newborn screening v0.265 | MBTPS2 | Zornitza Stark Marked gene: MBTPS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.265 | MBTPS2 | Zornitza Stark Gene: mbtps2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.265 | MBTPS2 | Zornitza Stark Phenotypes for gene: MBTPS2 were changed from Ichthyosis follicularis, alopecia & photophobia to IFAP syndrome with or without BRESHECK syndrome MIM#308205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.264 | MBTPS2 | Zornitza Stark Classified gene: MBTPS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.264 | MBTPS2 | Zornitza Stark Gene: mbtps2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.229 | MBTPS2 | David Amor reviewed gene: MBTPS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: IFAP syndrome: ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | MBTPS2 |
Zornitza Stark gene: MBTPS2 was added gene: MBTPS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MBTPS2 were set to Ichthyosis follicularis, alopecia & photophobia |
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