| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - paediatric v1.54 | NFU1 | Seb Lunke Marked gene: NFU1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.54 | NFU1 | Seb Lunke Gene: nfu1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.54 | NFU1 | Alison Yeung Classified gene: NFU1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.54 | NFU1 | Alison Yeung Gene: nfu1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.53 | NFU1 | Alison Yeung Classified gene: NFU1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.53 | NFU1 | Alison Yeung Gene: nfu1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.52 | NFU1 |
Lucy Spencer gene: NFU1 was added gene: NFU1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 36256512 Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711) Review for gene: NFU1 was set to GREEN Added comment: Adding to the phenotypic continuum of this gene. 19 affected individuals from 10 independent families with biallelic missense variants associated with a spectrum of early‐onset pure to complex hereditary spastic paraplegia (HSP) phenotype with a longer survival (16/19) on one end and neurodevelopmental delay with severe hypotonia (3/19) on the other. Sources: Literature |
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