FA2H

fatty acid 2-hydroxylase
OMIM: 611026
PanelMode of inheritanceDetails
6 panels
R-numbers: R60
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 35, autosomal recessive, 611026
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 35, autosomal recessive OMIM:612319, hereditary spastic paraplegia 35 MONDO:0012866
R-numbers: R57
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
fatty acid hydroxylase-associated neurodegeneration, Dystonia, Spastic paraplegia 35, autosomal recessive 612319
R-numbers: R61
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 35, autosomal recessive, 612319
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
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:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 35, autosomal recessive OMIM:612319, hereditary spastic paraplegia 35 MONDO:0012866