Differences in sex development
Gene: ARXEnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 15 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Apr 2019, 9:46 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and G2P / DD. At least 10 variants reported in Lissencephaly, X-linked 2 300215Created: 13 Sep 2016, 11:29 a.m.
Comment on phenotypes: Variants also reported in Epileptic encephalopathy, early infantile, 1 308350, Mental retardation, X-linked 29 and others 300419 and Partington syndrome 309510Created: 13 Sep 2016, 11:26 a.m.
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
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004
- ARX-related Disorders
- Lissencephaly, X-linked 2 300215
- OMIM
- 300382
- Clinvar variants
- Variants in ARX
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Differences in sex development
- Intestinal failure or congenital diarrhoea
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Cerebral vascular malformations
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Hydrocephalus
- Early onset dystonia
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ARX were set to Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004; ARX-related Disorders ; Lissencephaly, X-linked 2 300215
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene ARX were set to Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004; ARX-related Disorders Epileptic encephalopathy, early infantile, 1, 308350; Lissencephaly, X-linked 2 300215; Mental retardation, X-linked 29 and others, 300419; Partington syndrome, 309510
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene ARX were set to Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004; ARX-related Disorders Epileptic encephalopathy, early infantile, 1, 308350; Lissencephaly, X-linked 2 300215; Mental retardation, X-linked 29 and others, 300419; Partington syndrome, 309510
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene ARX were set to Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004 ARX-related Disorders Epileptic encephalopathy, early infantile, 1, 308350 Lissencephaly, X-linked 2, 300215 Mental retardation, X-linked 29 and others, 300419 Partington syndrome, 309510
Added New Source
Sarah Leigh (Genomics England Curator)ARX was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)ARX was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)ARX was added to Disorders of sex developmentpanel. Sources: UKGTN
Created
Sarah Leigh (Genomics England Curator)ARX was created by sleigh