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
-
- Intellectual disability
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- Hereditary ataxia
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
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