| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Leukodystrophy - paediatric v0.21 | GFPT1 | Bryony Thompson Classified gene: GFPT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.21 | GFPT1 | Bryony Thompson Gene: gfpt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.20 | GFPT1 |
Bryony Thompson gene: GFPT1 was added gene: GFPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFPT1 were set to 30635494 Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates 610542; Leukoencephalopathy Review for gene: GFPT1 was set to AMBER Added comment: 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease. MRI was suggestive of a mitochondrial leukoencephalopathy. Need additional unrelated cases with leukoencephalopathy as a feature of the condition to upgrade to green. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||