FA2H

fatty acid 2-hydroxylase
OMIM: 611026
PanelMode of inheritanceDetails
5 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
fatty acid hydroxylase-associated neurodegeneration, Dystonia, Spastic paraplegia 35, autosomal recessive 612319
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 35, autosomal recessive, 611026
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 35, autosomal recessive, 612319
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis), Early onset dystonia, Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism), Hereditary spastic paraplegia
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 35, autosomal recessive, 612319, spastic paraplegia with ID, cognitive defects, Seizures