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, adult onset
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary neuropathy or pain disorder
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Hereditary neuropathy
- Fetal anomalies
- DDG2P
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
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