Genomics England

ELOVL4

ELOVL fatty acid elongase 4

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spinocerebellar ataxia 34
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spinocerebellar ataxia 34, 133190, Spinocerebellar ataxia 34 133190
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spinocerebellar ataxia 34, OMIM:133190
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 4.16	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Ichthyosis, spastic quadriplegia, mental retardation
Green in Retinal disorders R-numbers: R32 Signed-off version 9.14	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Macular dystrophy, autosomal dominant, chromosome 6-linked, Stargardt disease 3, Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457, Stargardt Disease, Dominant, Stargardt disease 3, 600110, Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110, Ichthyosis, spastic quadriplegia, and mental retardation, 614457, Macular Dystrophy/Degeneration/Stargardt Disease, Eye Disorders