Clefting disorders
Gene: ATRX
ATRX (ATRX, chromatin remodeler)
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 20 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
- MRXHF1
- 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
16 Sep 2020, Gel status: 1
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 Clefting_GEL. Sources: Expert Review Red Mode of inheritance for gene: ATRX was set to Unknown Publications for gene: ATRX were set to 9788563 Phenotypes for gene: ATRX were set to MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1