Neurodegeneration with brain iron accumulation
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)
Complex form of HSP with some individuals having evidence NBIA. The presence of iron accumulation is quite variable and is typically more evident as the disease progresses or later onset.
PMID: 20853438 - individuals from two unrelated families with evidence of brain iron accumulation. Consanguity was reported in one family whilst the other was unknown. Y170X and R154C were reported in the two families - Both are present in gnomAD v4.1 but rare enough for AR condition.
PMID: 19068277 - unrelated individuals reported with iron accumulation on MRI and variants in FA2HCreated: 4 Dec 2024, 1:56 a.m. | Last Modified: 4 Dec 2024, 1:56 a.m.
Panel Version: 0.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hereditary spastic paraplegia 35 MONDO:0012866
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- GeneReviews
- Expert Review Green
- Phenotypes
-
- Fatty acid hydroxylase-associated neurodegeneration (FAHN)
- OMIM
- 611026
- Clinvar variants
- Variants in FA2H
- Penetrance
- None
- 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 Nov 2020, 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 Neuroferritinopathies. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FA2H were set to Fatty acid hydroxylase-associated neurodegeneration (FAHN)