Adult onset hereditary spastic paraplegia
Gene: FA2HEnsemblGeneIds (GRCh38): ENSG00000103089
EnsemblGeneIds (GRCh37): ENSG00000103089
OMIM: 611026, Gene2Phenotype
FA2H is in 17 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
In current HSP panel + In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 35, autosomal recessive, 611026
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Spastic paraplegia 35, autosomal recessive, OMIM:612319
- hereditary spastic paraplegia 35, MONDO:0012866
- OMIM
- 611026
- Clinvar variants
- Variants in FA2H
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive, 611026 to Spastic paraplegia 35, autosomal recessive, OMIM:612319; hereditary spastic paraplegia 35, MONDO:0012866
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: FA2H were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to FA2H.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to FA2H. Mode of inheritance for gene FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 35, autosomal recessive, 611026 for gene: FA2H Rating Changed from Red List (low evidence) to Green List (high evidence)
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 spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: FA2H was set to