Mitochondrial disorders
Gene: FA2H
FA2H (fatty acid 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000103089
EnsemblGeneIds (GRCh37): ENSG00000103089
OMIM: 611026, Gene2Phenotype
FA2H is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000103089
EnsemblGeneIds (GRCh37): ENSG00000103089
OMIM: 611026, Gene2Phenotype
FA2H is in 17 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in 7 unrelated casesCreated: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 35, autosomal recessive 612319
Publications
Details
- Sources
-
- Expert list
- Phenotypes
-
- Spastic paraplegia 35, autosomal recessive 612319
- OMIM
- 611026
- Clinvar variants
- Variants in FA2H
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Intellectual disability
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
History Filter Activity
5 Aug 2019, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive 612319
5 Aug 2019, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FA2H were set to
5 Aug 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: FA2H was added gene: FA2H was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: FA2H was set to