Growth failure
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)
At least three unrelated families reported.
Sources: Expert ReviewCreated: 18 Aug 2021, 10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 1, MIM# 210600
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Seckel syndrome 1, MIM# 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
18 Aug 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atr has been classified as Green List (High Evidence).
18 Aug 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atr has been classified as Green List (High Evidence).
18 Aug 2021, 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 Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATR were set to 12640452; 19620979; 30199583; 23111928 Phenotypes for gene: ATR were set to Seckel syndrome 1, MIM# 210600 Review for gene: ATR was set to GREEN