Disorders of sex development
Gene: ARX
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.
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.
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for ARX were set to Corpus Callosum, Agenesis Of, With Abnormal Genitalia, Proud syndrome 300004; ARX-related Disorders ; Lissencephaly, X-linked 2 300215
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
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
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
ARX was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
ARX was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
ARX was added to Disorders of sex developmentpanel. Sources: UKGTN
ARX was created by sleigh