Red cell disorders
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)
Well established gene-disease association.Created: 16 Sep 2021, 8:02 a.m. | Last Modified: 16 Sep 2021, 8:02 a.m.
Panel Version: 0.172
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-thalassaemia/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
- London South GLH
- 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-thalassaemia/mental retardation syndrome, MIM# 301040 to ATR-X-related syndrome MONDO:0016980
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atrx has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATRX were changed from 301040 Alpha-thalassemia/mental retardation syndrome to Alpha-thalassaemia/mental retardation syndrome, MIM# 301040
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATRX were set to 19444090; 17579672; 11449489
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ATRX was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atrx has been classified as Green List (High Evidence).
Set Phenotypes, Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX Publications for gene ATRX were updated from 19444090; 11449489; 17579672 to 19444090; 17579672; 11449489
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATRX was added gene: ATRX was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATRX were set to 19444090; 11449489; 17579672 Phenotypes for gene: ATRX were set to 301040 Alpha-thalassemia/mental retardation syndrome