Craniosynostosis

Gene: ATR

Red List (low evidence)

ATR (ATR serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000175054
EnsemblGeneIds (GRCh37): ENSG00000175054
OMIM: 601215, Gene2Phenotype
ATR is in 10 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Characteristic 'bird-headed' facial appearance. CSS has been described (e.g. Hopkins and Haines 2003) - however, it is not clear if these cases are molecularly confirmed and associated with this gene. CSS thought to be secondary to diminished brain growth - if green may need to include all the other genes causing this disorder as well? ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 1 - 210600

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ATR; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Craniosynostosis is likely low frequency association; should only be diagnosed when other features of microcephaly/ Seckel syndrome present
Created: 14 Sep 2015, 3:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly; Seckel syndrome

Publications

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Seckel syndrome 1 210600 for gene: ATR

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ATR.

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

ATR was added to Craniosynostosis syndromespanel. Sources: Expert list