Hereditary Neuropathy - complex
Gene: TDP1EnsemblGeneIds (GRCh38): ENSG00000042088
EnsemblGeneIds (GRCh37): ENSG00000042088
OMIM: 607198, Gene2Phenotype
TDP1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is an autosomal recessive neurologic disorder characterized by onset of gait disturbances in the first or second decades of life. Affected individuals have cerebellar ataxia associated with cerebellar atrophy on brain imaging, as well as an axonal sensorimotor neuropathy with distal sensory impairment, hypo- or areflexia, pes cavus, and steppage gait.
Three families reported, however all from Middle East and had same homozygous missense variant.Created: 26 Mar 2022, 2:26 a.m. | Last Modified: 26 Mar 2022, 2:26 a.m.
Panel Version: 0.120
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
- Tags
- OMIM
- 607198
- Clinvar variants
- Variants in TDP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: TDP1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TDP1 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; HMSN to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TDP1 were set to 31182267
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TDP1 was added gene: TDP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TDP1 were set to 31182267 Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; HMSN