| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Leukodystrophy - paediatric v0.118 | TOMM70 | Zornitza Stark Marked gene: TOMM70 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.118 | TOMM70 | Zornitza Stark Gene: tomm70 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.118 | TOMM70 | Zornitza Stark Classified gene: TOMM70 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.118 | TOMM70 | Zornitza Stark Gene: tomm70 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.117 | TOMM70 |
Zornitza Stark gene: TOMM70 was added gene: TOMM70 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: TOMM70 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TOMM70 were set to 32356556 Phenotypes for gene: TOMM70 were set to White matter abnormalities; Developmental delay; Regression; Movement disorder Review for gene: TOMM70 was set to AMBER Added comment: De novo mono allelic variants in the C-terminal region of TOMM70 reported in two individuals. While both individuals exhibited shared symptoms including hypotonia, hyperreflexia, ataxia, dystonia, and significant white matter abnormalities, there were differences between the two individuals, most prominently the age of symptom onset, with one experiencing episodes of regression. Some functional data. Note bi-allelic disease also reported in one individual, with features of a mitochondrial disorder. Sources: Literature |
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