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Research panel - 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 15 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
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

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ARX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ARX were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Lissencephaly, X-linked 2, 300215; Proud syndrome, 300004; Hydranencephaly with abnormal genitalia, 300215; Mental retardation, X-linked 29 and others, 300419 for gene: ARX

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Lissencephaly, X-linked 2, 300215; Proud syndrome, 300004; Hydranencephaly with abnormal genitalia, 300215; Mental retardation, X-linked 29 and others, 300419 for gene: ARX

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Lissencephaly, X-linked 2, 300215; Proud syndrome, 300004; Hydranencephaly with abnormal genitalia, 300215; Mental retardation, X-linked 29 and others, 300419 for gene: ARX

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hydranencephaly with abnormal genitalia, 300215; Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Proud syndrome, 300004; Mental retardation, X-linked 29 and others, 300419; Lissencephaly, X-linked 2, 300215 for gene: ARX

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ARX.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ARX. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ARX was added gene: ARX was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ARX was set to