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Epileptic encephalopathy

Gene: ARX

Green List (high evidence)

ARX (aristaless related homeobox)
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 15 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: The revised mode of inheritance fits with gene2phenotype of hemizygous inheritance for this disorder.
17 Dec 2015, 12:32 p.m.
Comment on mode of inheritance: Discussion with reviewer determined that females require two mutations to develop this disorder (X-linked recessive).
17 Dec 2015, 11:43 a.m.

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Where females manifest it would be due to x-skewing. Is this the right option?
12 Nov 2015, 1:50 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked, with or without seizures, ARX-related; Partington syndrome; Proud syndrome

Publications

  • Tsurusaki et al (2002) Nature 30: 441-445
  • Kato et al (2004) Hum Mut 23: 147-159
  • Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991
  • Partington et al (1998) Am J Med Genet 30: 251-262
  • Kato et al (2004) Hum Mut 23: 147-159

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Where females manifest it would be due to x-skewing. Is this the right option?
12 Nov 2015, 1:14 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked, with or without seizures, ARX-related; Partington syndrome; Proud syndrome

Publications

  • Tsurusaki et al (2002) Nature 30: 441-445
  • Kato et al (2004) Hum Mut 23: 147-159
  • Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991
  • Partington et al (1998) Am J Med Genet 30: 251-262
  • Kato et al (2004) Hum Mut 23: 147-159

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Where females manifest it would be due to x-skewing. Is this the right option?
12 Nov 2015, 1:04 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked, with or without seizures, ARX-related; Partington syndrome; Proud syndrome

Publications

  • Tsurusaki et al (2002) Nature 30: 441-445
  • Kato et al (2004) Hum Mut 23: 147-159
  • Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991
  • Partington et al (1998) Am J Med Genet 30: 251-262
  • Kato et al (2004) Hum Mut 23: 147-159

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Where females manifest it would be due to x-skewing. Is this the right option?
12 Nov 2015, 12:26 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked, with or without seizures, ARX-related; Partington syndrome; Proud syndrome

Publications

  • Tsurusaki et al (2002) Nature 30: 441-445
  • Kato et al (2004) Hum Mut 23: 147-159
  • Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991
  • Partington et al (1998) Am J Med Genet 30: 251-262
  • Kato et al (2004) Hum Mut 23: 147-159

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
OMIM
300382
Clinvar variants
Variants in ARX
Penetrance
Complete
Publications
  • Tsurusaki et al (2002) Nature 30: 441-445
  • Kato et al (2004) Hum Mut 23: 147-159
  • Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991
  • Partington et al (1998) Am J Med Genet 30: 251-262
  • Kato et al (2004) Hum Mut 23: 147-159
Panels with this gene

History Filter Activity

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

17 Dec 2015, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ARX were set to Tsurusaki et al (2002) Nature 30: 441-445; Kato et al (2004) Hum Mut 23: 147-159; Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991; Partington et al (1998) Am J Med Genet 30: 251-262; Kato et al (2004) Hum Mut 23: 147-159

17 Dec 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

ARX was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

ARX was added to Epileptic encephalopathypanel. Sources: Expert Review Green

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ARX was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ARX was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARX was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert