IUGR and IGF abnormalities
Gene: ATRXEnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 13 panels
4 reviews
Mehul Dattani (UCL Institute of Child Health)
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
emma baple (Genomics England Curator)
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- SGA, which is sometimes called intrauterine growth restriction (IUGR),
- OMIM
- 300032
- Clinvar variants
- Variants in ATRX
- Penetrance
- Complete
- Panels with this gene
-
- Rare anaemia
- Osteogenesis imperfecta
- Monogenic short stature
- Severe microcephaly
- IUGR and IGF abnormalities
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Cytopenias and congenital anaemias
- Gastrointestinal neuromuscular disorders
- Differences in sex development
- Clefting
- Fetal anomalies
History Filter Activity
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()ATRX was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory