Ataxia - paediatric
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
Bryony Thompson (Royal Melbourne Hospital)
Limb ataxia is reported as a feature of the condition in at least 13 cases with mainly paediatric onset.
Sources: Expert listCreated: 17 Jun 2020, 12:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 35, autosomal recessive MIM#612319
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spastic paraplegia 35, autosomal recessive MIM#612319
- 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
17 Jun 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fa2h has been classified as Green List (High Evidence).
17 Jun 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fa2h has been classified as Green List (High Evidence).
17 Jun 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FA2H was added gene: FA2H was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to 31135052 Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive MIM#612319 Review for gene: FA2H was set to GREEN