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| Differences of Sex Development v0.60 | RPL10 | Zornitza Stark Marked gene: RPL10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.60 | RPL10 | Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.60 | RPL10 | Zornitza Stark Classified gene: RPL10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.60 | RPL10 | Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.42 | RPL10 |
Crystle Lee gene: RPL10 was added gene: RPL10 was added to Disorders of Sex Differentiation. Sources: Expert Review Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RPL10 were set to 25316788; 26290468; 25846674; 29066376 Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 (MIM#300998) Review for gene: RPL10 was set to GREEN Added comment: At least 3 variants have been reported. Urogenital anomalies are a feature of the associated condition. PMID: 25316788: Variant reported in 3 members of a family. Genitourinary abnormalities (ie cryptorchidism) reported in all 3 affected individuals. PMID: 26290468: Reported in a family with two affected cousins presenting with X-linked ID, cerebellar hypoplasia, and spondylo-epiphyseal dysplasia. Only one of the affected males presented with cryptorchidism. PMID: 25846674: 3 of 4 affected males in the family presented with urogenital anomalies Sources: Expert Review |
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