Monogenic short stature
Gene: ATRX
ATRX (ATRX, chromatin remodeler)
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 13 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- SGA, which is sometimes called intrauterine growth restriction (IUGR),
- OMIM
- 300032
- Clinvar variants
- Variants in ATRX
- Penetrance
- None
- Panels with this gene
-
- Cytopenias and congenital anaemias
- DDG2P
- IUGR and IGF abnormalities
- Fetal anomalies
- Rare anaemia
- Gastrointestinal neuromuscular disorders
- Early onset or syndromic epilepsy
- Differences in sex development
- Clefting
- Severe microcephaly
- Monogenic short stature
- Osteogenesis imperfecta
- Intellectual disability
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: ATRX was added gene: ATRX was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: ATRX was set to Unknown Phenotypes for gene: ATRX were set to SGA, which is sometimes called intrauterine growth restriction (IUGR),