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Genetic epilepsy syndromes

Gene: IQSEC2

Green List (high evidence)

IQSEC2 (IQ motif and Sec7 domain 2)
EnsemblGeneIds (GRCh38): ENSG00000124313
EnsemblGeneIds (GRCh37): ENSG00000124313
OMIM: 300522, Gene2Phenotype
IQSEC2 is in 5 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)

X-linked dom mental retardation 1 (MRX1). OMIM lists seizures seen in some patients. Suthers et al 1988 - large family with multiple males spannig generations affected - 1 had infrequent seizures. Shoubridge et al 2010 - some affecteds had seizures. Aff members of 4 unrelated families - 4 diff hemizygous variants. Tran Mau-Them, 2014 - 3 unrelated males - 2 developed seizures - 3 diff mutations detected - 2 led to premature termination and 1 was nonsense. De Vries et al, 2002 & Kalscheuer et al, 2016 - 6 aff males, 7 aff females, 2 males had epilepsy and 1 a single seizure - missense variant detected, expression studies supported pathogenicity. On HGMD Pro - more cases associating this gene with an epilepsy phenotype - Zerem et al, 2016, Hamdan et al, 2017.
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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

Publications

  • Shoubridge et al (2010) Nat Genet 42(6): 486-8

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

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

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

Publications

  • Shoubridge et al (2010) Nat Genet 42(6): 486-8

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

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

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

Publications

  • Shoubridge et al (2010) Nat Genet 42(6): 486-8

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

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

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

Publications

  • Shoubridge et al (2010) Nat Genet 42(6): 486-8

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

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Checked the mode of inheritance with the reviewer to confirm.
Created: 20 Jan 2016, 12:08 p.m.
Comment on phenotypes: Phenotype from OMIM.
Created: 20 Jan 2016, 12:06 p.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).
Created: 12 Nov 2015, 4:18 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked 1
OMIM
300522
Clinvar variants
Variants in IQSEC2
Penetrance
None
Publications
  • Shoubridge et al (2010) Nat Genet 42(6): 486-8
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 IQSEC2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to IQSEC2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Gene added in expert review of

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to IQSEC2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

IQSEC2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

IQSEC2 was created by Sarah Leigh