Vascular Malformations_Germline
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
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single multigenerational family reported.
Sources: Expert listCreated: 2 Jul 2020, 2:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cutaneous telangiectasia and cancer syndrome, familial, MIM# 614564
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Cutaneous telangiectasia and cancer syndrome, familial, MIM# 614564
- OMIM
- 601215
- Clinvar variants
- Variants in ATR
- Penetrance
- None
- Publications
- 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
2 Jul 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atr has been classified as Red List (Low Evidence).
2 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATR was added gene: ATR was added to Vascular Malformations_Germline. Sources: Expert list Mode of inheritance for gene: ATR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATR were set to 22341969 Phenotypes for gene: ATR were set to Cutaneous telangiectasia and cancer syndrome, familial, MIM# 614564 Review for gene: ATR was set to RED