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| Miscellaneous Metabolic Disorders v1.3 | MSMO1 | Zornitza Stark Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols; MONDO:0014793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.252 | MSMO1 | Bryony Thompson Marked gene: MSMO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.252 | MSMO1 | Bryony Thompson Gene: msmo1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.252 | MSMO1 | Bryony Thompson Classified gene: MSMO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.252 | MSMO1 | Bryony Thompson Gene: msmo1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.251 | MSMO1 |
Bryony Thompson gene: MSMO1 was added gene: MSMO1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSMO1 were set to 27604308; 21285510; 24144731; 33161406; 28673550 Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols Review for gene: MSMO1 was set to GREEN gene: MSMO1 was marked as current diagnostic Added comment: 5 cases in 4 unrelated families reported, with supporting biochemical assays demonstrating an inborn error of sterol metabolism. Sources: NHS GMS |
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