This Panel is marked as Retired
TCGA_PANCAN_2018
Gene: ATR
ATR (ATR serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000175054
EnsemblGeneIds (GRCh37): ENSG00000175054
OMIM: 601215, Gene2Phenotype
ATR is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000175054
EnsemblGeneIds (GRCh37): ENSG00000175054
OMIM: 601215, Gene2Phenotype
ATR is in 16 panels
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Details
- Mode of Inheritance
- Other
- Sources
-
- TCGA_PANCAN_2018
- Phenotypes
-
- Seckel syndrome
- Cutaneous telangiectasia and cancer syndrome, familial
- OMIM
- 601215
- Clinvar variants
- Variants in ATR
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- Microcephaly
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Vascular Malformations_Germline
- Fetal anomalies
- Additional findings_Paediatric
- Microcephalic Primordial Dwarfism and Slender bone dysplasias
- Mendeliome
- Prepair 500+
- Cerebral vascular malformations
- Callosome
- Growth failure
- Cerebral Palsy
History Filter Activity
8 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Lavinia Gordon (UMCCR)gene: ATR was added gene: ATR was added to TCGA_PANCAN_2018. Sources: TCGA_PANCAN_2018 Mode of inheritance for gene: ATR was set to Other Phenotypes for gene: ATR were set to Seckel syndrome; Cutaneous telangiectasia and cancer syndrome, familial