| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebellar and Pontocerebellar Hypoplasia v1.3 | AIMP1 | Zornitza Stark Marked gene: AIMP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.3 | AIMP1 | Zornitza Stark Gene: aimp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.3 | AIMP1 |
Zornitza Stark gene: AIMP1 was added gene: AIMP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIMP1 were set to 30924036 Phenotypes for gene: AIMP1 were set to Pontocerebellar hypoplasia Review for gene: AIMP1 was set to RED Added comment: Single individual reported with homozygous frameshift variant and PCH/simplified gyral pattern. Note bi-allelic variants in this gene are typically associated with hypomyelinating leukodystrophy/neurodegeneration. Sources: Literature |
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