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
-
- Cytopenias and congenital anaemias
- DDG2P
- IUGR and IGF abnormalities
- Rare anaemia
- Gastrointestinal neuromuscular disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- Differences in sex development
- Clefting
- Severe microcephaly
- Monogenic short stature
- Osteogenesis imperfecta
- Intellectual disability
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