Gastrointestinal neuromuscular disease
Gene: ATRXEnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 20 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Gastrointestinal problems can be a prominent feature of the condition.
Sources: NHS GMSCreated: 3 Jul 2020, 6:38 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Alpha-thalassemia/mental retardation syndrome MIM#301040
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- ATR-X-related syndrome MONDO:0016980
- OMIM
- 300032
- Clinvar variants
- Variants in ATRX
- Penetrance
- None
- Publications
- Panels with this gene
-
- Red cell disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Angelman Rett like syndromes
- Prepair 1000+
- Microcephaly
- Gastrointestinal neuromuscular disease
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Differences of Sex Development
- Cancer Predisposition_Paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Prepair 500+
- Callosome
- Growth failure
- Cerebral Palsy
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome MIM#301040 to ATR-X-related syndrome MONDO:0016980
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atrx has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atrx has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATRX was added gene: ATRX was added to Gastrointestinal neuromuscular disease. Sources: NHS GMS Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ATRX were set to 16688741 Phenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome MIM#301040 Review for gene: ATRX was set to GREEN