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| Hereditary Spastic Paraplegia v1.134 | Zornitza Stark Added reviews for gene SELENOI from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.133 | SELENOI | Zornitza Stark Publications for gene: SELENOI were set to 28052917; 29500230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.132 | SELENOI | Zornitza Stark Phenotypes for gene: SELENOI were changed from Spastic paraplegia 81, autosomal recessive 618768; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals to Spastic paraplegia 81, autosomal recessive 618768 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.131 | SELENOI | Zornitza Stark Classified gene: SELENOI as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.131 | SELENOI | Zornitza Stark Gene: selenoi has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.130 | SELENOI | Zornitza Stark edited their review of gene: SELENOI: Added comment: PMIDs 33454747 and 39806532 add 2 additional unrelated families (bringing the total to 4 families) with autosomal recessive loss-of-function SELENOI variants causing complicated hereditary spastic paraplegia. Core features include early‑onset spastic paraplegia, white matter abnormalities, intellectual disability, sensorineural deafness, blindness, seizures, microcephaly, bifid uvula/cleft palate, and retinal pigment abnormalities. Some functional data.; Changed rating: GREEN; Changed publications: 28052917, 29500230, 39806532, 33454747 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.48 | SELENOI | Zornitza Stark Marked gene: SELENOI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.48 | SELENOI | Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.48 | SELENOI | Zornitza Stark Phenotypes for gene: SELENOI were changed from severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures to Spastic paraplegia 81, autosomal recessive 618768; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.47 | SELENOI | Zornitza Stark Classified gene: SELENOI as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.47 | SELENOI | Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.46 | SELENOI | Zornitza Stark reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: None; Publications: 28052917, 29500230; Phenotypes: Spastic paraplegia 81, autosomal recessive 618768, developmental delay, spasticity, periventricular white mater abnormalities, peripheral neuropathy, seizures, bifid uvula in some affected individuals; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.0 | SELENOI |
Bryony Thompson gene: SELENOI was added gene: SELENOI was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SELENOI were set to 28052917; 29500230 Phenotypes for gene: SELENOI were set to severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures |
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