ELOVL1

ELOVL fatty acid elongase 1
OMIM: 611813, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ELOVL1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527
Green ELOVL1 in Ichthyosis Level 2: Dermatological disorders Version 1.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527
Green ELOVL1 in Mendeliome Version 1.2302	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527
Red ELOVL1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527
Green ELOVL1 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527
Green ELOVL1 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.86 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527