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| Leukodystrophy - paediatric v0.282 | SLC35B2 | Zornitza Stark edited their review of gene: SLC35B2: Changed phenotypes: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.257 | SLC35B2 | Zornitza Stark Marked gene: SLC35B2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.257 | SLC35B2 | Zornitza Stark Gene: slc35b2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.257 | SLC35B2 | Zornitza Stark Classified gene: SLC35B2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.257 | SLC35B2 | Zornitza Stark Gene: slc35b2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.256 | SLC35B2 |
Zornitza Stark gene: SLC35B2 was added gene: SLC35B2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35B2 were set to 35325049 Phenotypes for gene: SLC35B2 were set to Leukodystrophy, MONDO:0019046, SLC35B2-related Review for gene: SLC35B2 was set to AMBER Added comment: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein. Sources: Literature |
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| Leukodystrophy - paediatric v0.253 | SLC35A2 |
Zornitza Stark gene: SLC35A2 was added gene: SLC35A2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: SLC35A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A2 were set to 35325049 Phenotypes for gene: SLC35A2 were set to Leukodystrophy, MONDO:0019046, SLC35B2-related Review for gene: SLC35A2 was set to AMBER Added comment: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein. Sources: Literature |
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