This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: APTX
APTX (aprataxin)
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 16 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Editing and processing nucleases
- Activity: Processing of DNA single-strand interruptions
- OMIM
- 606350
- Clinvar variants
- Variants in APTX
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Likely inborn error of metabolism
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)APTX was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)APTX was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database