Ataxia and cerebellar anomalies - narrow panel
Gene: FA2HEnsemblGeneIds (GRCh38): ENSG00000103089
EnsemblGeneIds (GRCh37): ENSG00000103089
OMIM: 611026, Gene2Phenotype
FA2H is in 17 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least eight variants reported in seven unrelated cases.Created: 14 Apr 2021, 2:19 p.m. | Last Modified: 14 Apr 2021, 2:19 p.m.
Panel Version: 2.101
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Apr 2021, 2:18 p.m. | Last Modified: 14 Apr 2021, 2:18 p.m.
Panel Version: 2.101
Zornitza Stark (Australian Genomics)
Limb ataxia is reported as a feature of the condition in at least 13 cases with mainly paediatric onset.
Sources: Expert listCreated: 12 Sep 2020, 3:51 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
-
- NHS GMS
- Expert Review Green
- 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
-
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Intellectual disability
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: FA2H.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to FA2H. Source NHS GMS was added to FA2H. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FA2H were set to 31135052
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: FA2H.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: fa2h has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive MIM#612319 to Spastic paraplegia 35, autosomal recessive OMIM:612319; hereditary spastic paraplegia 35 MONDO:0012866
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: FA2H was added gene: FA2H was added to Ataxia and cerebellar anomalies - narrow panel. 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