Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ATR
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 WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 1 - 210600
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: amberCreated: 5 Mar 2019, 11:21 a.m.
Craniosynostosis is likely low frequency association; should only be diagnosed when other features of microcephaly/ Seckel syndrome presentCreated: 14 Sep 2015, 3:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly; Seckel syndrome
Publications
Added phenotypes Seckel syndrome 1 210600 for gene: ATR
Source NHS GMS was added to ATR.
This gene has been classified as Red List (Low Evidence).
ATR was added to Craniosynostosis syndromespanel. Sources: Expert list