Hereditary neuropathy
Gene: FA2HEnsemblGeneIds (GRCh38): ENSG00000103089
EnsemblGeneIds (GRCh37): ENSG00000103089
OMIM: 611026, Gene2Phenotype
FA2H is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Phenotypes
-
- Spastic paraplegia 35, autosomal recessive, 612319
- SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed
- OMIM
- 611026
- Clinvar variants
- Variants in FA2H
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Adult onset hereditary spastic paraplegia
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: FA2H were set to
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive, 612319; SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FA2H.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: FA2H was added gene: FA2H was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: FA2H was set to