Early onset or syndromic epilepsy

Gene: MOGS

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)

AR congenital disorder of glycosylation type 2b (CDG2B). De Praeter et al, 2000 - neonate with severe generalised hypotonia and dysmorphic features. Clinical course ws progressive and seizures present with death at 74 days - compound het for two missense variants. Sadat et al, 2014 - 2 sibs with CDG2B - both had a complex disorder incl seizures - compound het mutations identified, parents het carriers - mutations resulted in lack of detectable protein expression. Kim et al, 2018 - 2nd child to non-consang Korean parents - first child died at 7 months due to unexplained liver failure. No seizure events reported. Mum thinks both sibs were phenotypically similar and he died aged 4 months. Compound het for a missense and a nonsense variant, both parents carriers. Kane et al, 2016 - 2 siblings aged 6 and 11 compound het for a missense and a nonsense variant - neither child has seizures or epilepsy mentioned as part of there complex phenotype. It is thought the milder phenotypic course is due to mitotic intragenic recombination. Only seizures reported in the Sadat family and not in any others

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

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iib, 606056

Publications

• 24716661
• 30587846

Green List (high evidence)

Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL

Created: 21 Mar 2017, 3:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIb, 606056