Dystonia - complex
Gene: FA2H
FA2H (fatty acid 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000103089
EnsemblGeneIds (GRCh37): ENSG00000103089
OMIM: 611026, Gene2Phenotype
FA2H is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000103089
EnsemblGeneIds (GRCh37): ENSG00000103089
OMIM: 611026, Gene2Phenotype
FA2H is in 14 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
>3 unrelated affected individuals reported with complex HSP. The disease is characterised by early onset progressive spastic paraparesis. Affected individuals presented with variable neurological features including dystonia, seizures and optic atrophy.Created: 9 Dec 2024, 3:38 a.m. | Last Modified: 9 Dec 2024, 3:38 a.m.
Panel Version: 0.254
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hereditary spastic paraplegia 35 MONDO:0012866
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Dystonia
- Spastic paraplegia 35, autosomal recessive 612319
- fatty acid hydroxylase-associated neurodegeneration
- OMIM
- 611026
- Clinvar variants
- Variants in FA2H
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Early-onset Dementia
- Hereditary Spastic Paraplegia - adult onset
- Neurodegeneration with brain iron accumulation
- Leukodystrophy - paediatric
- Prepair 1000+
- Dystonia - complex
- Mendeliome
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
10 Dec 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fa2h has been classified as Green List (High Evidence).
10 Dec 2024, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FA2H were set to
27 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FA2H was added gene: FA2H was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FA2H were set to Dystonia; Spastic paraplegia 35, autosomal recessive 612319; fatty acid hydroxylase-associated neurodegeneration