Ataxia - paediatric
Gene: ELOVL1
De novo missense (S165F) in 2 unrelated patients. Decrease in ELOVL1 enzyme activity. The same 2 patients are in PMIDs: 30487246 and 29496980 but with different clinical findings. Deafness and optic atrophy are the additional features.Created: 20 Apr 2020, 3:28 a.m. | Last Modified: 20 Apr 2020, 3:30 a.m.
Panel Version: 0.2365
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ichthyosis; acanthosis nigricans; hypomyelination; spastic paraplegia; high frequency deafness; optic atrophy; nystagmus
Publications
Ataxia is not a prominent feature of this condition.
Sources: Expert listCreated: 16 Jan 2020, 5:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527
Ataxia is not a prominent feature of this condition.
Sources: Expert listCreated: 27 Dec 2019, 3:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM#618527
Gene: elovl1 has been classified as Red List (Low Evidence).
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