Clefting
Gene: ATR
ATR (ATR serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000175054
EnsemblGeneIds (GRCh37): ENSG00000175054
OMIM: 601215, Gene2Phenotype
ATR is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000175054
EnsemblGeneIds (GRCh37): ENSG00000175054
OMIM: 601215, Gene2Phenotype
ATR is in 10 panels
2 reviews
Arianna Tucci (Genomics England Curator)
Cleft only reported once in Seckel syndrome, so would mark it as amberCreated: 31 May 2017, 2:16 p.m.
Ellen McDonagh (Genomics England Curator)
Is green on the Cerebrovascular disorders Version 1.27, Intellectual disability version 1.151, and Primary Microcephaly - Microcephalic Dwarfism Spectrum Version 1.6 gene panels. More than 3 families or cases for Seckel syndrome 1, which does include Cleft palate as a clinical phenotype.Created: 31 May 2017, 1:52 p.m.
Phenotypes
SECKEL SYNDROME 1; SCKL1
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Seckel syndrome 1, OMIM:210600
- OMIM
- 601215
- Clinvar variants
- Variants in ATR
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
24 Apr 2024, Gel status: 2
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATR were changed from SECKEL SYNDROME 1; SCKL1 to Seckel syndrome 1, OMIM:210600
24 Apr 2024, Gel status: 2
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATR was changed from to BIALLELIC, autosomal or pseudoautosomal
31 May 2017, Gel status: 2
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATR was created by ellenmcdonagh
31 May 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)ATR was added to Cleftingpanel. Sources: Expert Review Amber