| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - paediatric v0.31 | GJC2 | Zornitza Stark Marked gene: GJC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.31 | GJC2 | Zornitza Stark Gene: gjc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.31 | GJC2 | Zornitza Stark Classified gene: GJC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.31 | GJC2 | Zornitza Stark Gene: gjc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.30 | GJC2 |
Zornitza Stark gene: GJC2 was added gene: GJC2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GJC2 were set to 19056803; 31431325; 25059390 Phenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive, MIM# 613206 Review for gene: GJC2 was set to AMBER Added comment: Bi-allelic variants in GJC2 are associated with severe infantile-onset hypomyelinating leukodystrophy. One family reported with a milder phenotype, where spasticity was prominent. Onset of symptoms was in late childhood, with more marked progression in the third decade. Another family reported with an ataxia-predominant phenotype, and another with subclinical leukodystrophy. Hence the link between this gene and isolated HSP is not fully established at this stage. Sources: Expert list |
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