Activity
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4 actions
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| Mendeliome v0.6684 | IFRD1 | Zornitza Stark Marked gene: IFRD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6684 | IFRD1 | Zornitza Stark Gene: ifrd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6684 | IFRD1 |
Zornitza Stark gene: IFRD1 was added gene: IFRD1 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IFRD1 were set to 29362493 Phenotypes for gene: IFRD1 were set to Hereditary spastic paraplegia; peripheral neuropathy; ataxia Review for gene: IFRD1 was set to RED Added comment: A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD. Sources: Expert Review |
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| Mendeliome v0.6684 | IFRD1 |
Zornitza Stark gene: IFRD1 was added gene: IFRD1 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IFRD1 were set to 29362493 Phenotypes for gene: IFRD1 were set to Hereditary spastic paraplegia; peripheral neuropathy; ataxia Review for gene: IFRD1 was set to RED Added comment: A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD. Sources: Expert Review |
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