Structural basal ganglia 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
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 8 variants reportedCreated: 6 Mar 2017, 1:51 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spastic paraplegia 35, autosomal recessive 612319
- OMIM
- 611026
- Clinvar variants
- Variants in FA2H
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
- Structural basal ganglia disorders
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary spastic paraplegia, adult onset
- Hereditary spastic paraplegia, childhood onset
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset dystonia
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary spastic paraplegia
- Hereditary neuropathy
- Mitochondrial disorders
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Mar 2017, Gel status: 4
Set publications
Sarah Leigh (Genomics England Curator)Publications for FA2H were set to 19068277
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Mar 2017, Gel status: 0
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FA2H were set to Spastic paraplegia 35, autosomal recessive 612319
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)FA2H was added to Structural basal ganglia disorderspanel. Sources: Literature
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)FA2H was created by Manju