Cerebral vascular malformations
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
Sangavi Sivagnanasundram (Melbourne Health)
There are many reports of individuals diagnosed with Seckel syndrome and having a MoyaMoya-like finding on their brain MRI however no genetic link between ATR and moyamoya has been identified as of yet from a literature search. No variants have been reported in affected individuals with a moyamoya-like brain imaging.
Rated Amber on PanelApp UK due to the correlation between Seckel syndrome and MoyaMoya Disease.Created: 18 Nov 2024, 11:50 p.m. | Last Modified: 18 Nov 2024, 11:50 p.m.
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 1 MONDO:0008869
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Seckel syndrome 1 210600
- 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
30 Nov 2024, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atr has been classified as Red List (Low Evidence).
18 May 2020, Gel status: 2
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 Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATR were set to 12640452 Phenotypes for gene: ATR were set to Seckel syndrome 1 210600