Arthrogryposis
Gene: ATRXEnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 20 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
The hallmark of this condition is hypotonia. Contractures have been described but are not a key/prominent feature.Created: 11 Jul 2020, 12:46 a.m. | Last Modified: 11 Jul 2020, 12:46 a.m.
Panel Version: 0.86
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Alpha-thalassemia/mental retardation syndrome, MIM# 301040
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Alpha-thalassemia/mental retardation syndrome, MIM# 301040
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atrx has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome, MIM# 301040
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATRX were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atrx has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATRX was added gene: ATRX was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATRX was set to Unknown