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| Mendeliome v1.3691 | SLC6A9 | Zornitza Stark Phenotypes for gene: SLC6A9 were changed from Glycine encephalopathy with normal serum glycine, MIM# 617301 to Glycine encephalopathy with normal serum glycine, MIM# 617301; Scoliosis, isolated, susceptibility to, 6, MIM# 621428 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3690 | SLC6A9 | Zornitza Stark Mode of inheritance for gene: SLC6A9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3689 | SLC6A9 |
Zornitza Stark edited their review of gene: SLC6A9: Added comment: 26 patients from 5 families with adolescent idiopathic scoliosis. Plasma glycine concentration measured in 15 patients was elevated compared to that in 36 unaffected controls. In addition, surface electromyography in 2 affected children showed aberrant paraspinal muscle activity, which was not observed in affected adults, suggesting an etiology for the spinal curvature occurring during the developmental period. Two different missense variants reported. Functional studies indicated a dominant negative effect. In zebrafish, mutant glyt1 protein was shown to exhibit dominant-negative effects over the wildtype protein. All slc6A9 hmz m/m fish died by 18 days postfertilization (dpf), whereas about half of the slc6A9 het m/+ fish survived to 30 dpf. Glycine levels were elevated in the slc6A9 m/m fish, and at 7 dpf the majority of the mutant fish had a lateral axial curvature. In addition, some of the slc6A9 m/+ fish also had a lateral axial curvature, which persisted through day 100 dpf. The spinal curvature was rescued by expression of wildtype SLC6A9 but not with expression of SLC6A9 with a Y206F or R662W mutation. Treatment of the slc6A9 m/m fish with benzoate, a glycine neutralizer, moderately improved the curvature phenotype; Changed publications: 27481395, 27773429, 14622582, 33269555, 37962965; Changed phenotypes: Glycine encephalopathy with normal serum glycine, MIM# 617301, Scoliosis, isolated, susceptibility to, 6, MIM# 621428; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Mendeliome v0.11612 | SLC6A9 | Zornitza Stark Marked gene: SLC6A9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11612 | SLC6A9 | Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11612 | SLC6A9 | Zornitza Stark Phenotypes for gene: SLC6A9 were changed from to Glycine encephalopathy with normal serum glycine, MIM# 617301 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11611 | SLC6A9 | Zornitza Stark Publications for gene: SLC6A9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11610 | SLC6A9 | Zornitza Stark Mode of inheritance for gene: SLC6A9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11609 | SLC6A9 | Zornitza Stark reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27481395, 27773429, 14622582, 33269555; Phenotypes: Glycine encephalopathy with normal serum glycine, MIM# 617301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SLC6A9 |
Zornitza Stark gene: SLC6A9 was added gene: SLC6A9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC6A9 was set to Unknown |
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