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Severe Paediatric Disorders

Gene: ARX

Green List (high evidence)

ARX (aristaless related homeobox)
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 16 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ARX; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epileptic encephalopathy, early infantile, 1, 308350 (3) | Hydranencephaly with abnormal genitalia, 300215 (3) | Lissencephaly, X-linked 2, 300215 (3) | Mental retardation, X-linked 29 and others, 300419 (3) | Partington syndrome, 309510 (3) | Proud syndrome, 300004 (3); Mode of inheritance: X-linked recessive | X-linked | X-linked | X-linked recessive | X-linked recessive | X-linked
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 1, 308350
  • Partington syndrome, 309510
  • Proud syndrome, 300004
  • Lissencephaly, X-linked 2, 300215
  • Hydranencephaly with abnormal genitalia, 300215
  • Mental retardation, X-linked 29 and others, 300419
OMIM
300382
Clinvar variants
Variants in ARX
Penetrance
None
Publications
Panels with this gene