Early onset or syndromic epilepsy

Gene: EFTUD2

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

Green List (high evidence)

AD mandibulofacial dysostosis - Guion-Almedia type. Rare syndrome comprising progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant dev delay and speech delay. OMIM reports seizures in some patients. Lines et al, 2012 - follow up of the patients reported by Guion-Almedia et al, 2006 and Wieczorek et al 2009 as well as an additional 7 patients with a similar phenotype (12 individuals in total) 5/12 had seizures. All had de novo het variants in or del involving EFTUD2 gene - del, fs, splicing, nonsense - consistent with haploinsufficiency. Huang et al 2016 - previous to this report, 69 individuals (64 kindreds) with mutations in EFTUD2 incl indivdiuals with cytogenetically visible chr abberations. In this paper a further 38 aff individuals belonging to 30 kindreds. Patients in this paper 9/30 had seizures and 21/77 in prev reported cases ~27%.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type, 610536

Publications

• 22305528

I don't know

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported, with 6 unrelated cases displaying seizures in additional to the standard features of Mandibulofacial dysostosis, Guion-Almeida type 610536 (PMIDs: 22305528 & 19334086).

Created: 9 Apr 2018, 8:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type 610536

Publications

• 22305528
• 19334086