Early onset or syndromic epilepsy
Gene: IQSEC2
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
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
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
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.
Publications for gene: IQSEC2 were set to Shoubridge et al (2010) Nat Genet 42(6): 486-8
Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1 to Intellectual developmental disorder, X-linked 1, OMIM:309530
Source Wessex and West Midlands GLH was added to IQSEC2.
Source NHS GMS was added to IQSEC2.
Ellen McDonagh: Gene added in expert review of
Victorian Clinical Genetics Services was added to IQSEC2. Panel: Genetic Epilepsy Syndromes
IQSEC2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review
IQSEC2 was created by Sarah Leigh