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Ataxia - paediatric v0.183 | ELOVL1 | Zornitza Stark Marked gene: ELOVL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.183 | ELOVL1 | Zornitza Stark Gene: elovl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.26 | ELOVL1 |
Bryony Thompson gene: ELOVL1 was added gene: ELOVL1 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 Review for gene: ELOVL1 was set to RED Added comment: Ataxia is not a prominent feature of this condition. Sources: Expert list |