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Genetic epilepsy syndromes

Gene: ARX

Green List (high evidence)

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

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Polyalanine tract expansion (exon 2) in addition to missense, nonesense, frameshift variants etc. phenotypic spectrum of disorders caused by a variant in the ARX gene, comprising a nearly continuous series of developmental disorders ranging from MR (Partington syndrome), hrdanencephaly and lissencephaly (LISX2), Proud syndrome and XLR EIEE1 - these final 2 are both associated with seizures. Males with ARX mutations are often more severely affected, female mutation carriers may also be affected. Lots of reported cases - OMIM and HGMD Pro. Functional studies - Shoubridge et al, 2012.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Epileptic encephalopathy, early infantile, 1, 308350; Hydranencephaly with abnormal genitalia,300215 ; Lissencephaly, X-linked 2, 300215; Mental retardation, X-linked 29, 300419; Partington syndrome,309510; Proud syndrome, 300004

Publications

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: The revised mode of inheritance fits with gene2phenotype of hemizygous inheritance for this disorder.
Created: 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).
Created: 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?
Created: 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?
Created: 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?
Created: 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?
Created: 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
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 1 308350
  • Hydranencephaly with abnormal genitalia 300215
  • Lissencephaly, X-linked 2 300215
  • Mental retardation, X-linked 29 and others 300419
  • Partington syndrome 309510
  • Proud syndrome 300004
OMIM
300382
Clinvar variants
Variants in ARX
Penetrance
None
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
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ARX.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ARX.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Richard Scott: Where females manifest it woul

8 Nov 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to ARX. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ARX. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ARX was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,Radboud University Medical Center, Nijmegen,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

ARX was created by Sarah Leigh