Early onset or syndromic epilepsy

Gene: ST3GAL5

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)

Previously called SIAT9. AR Salt and pepper developmental regression syndrome - neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures with profoundly delayed pyschomotor development and/or developmental regression, abnormal movements and visual loss. Also see hypo and hyper-pigmented skin macules on trunk, face and extremities. Amish founder mutatiob - Arg288* (Simpson et al 2004) and also reported in 2 affected French sibs with consanguinity 0 Fragaki et al, 2013. a handful of other variants have been reported - compound het variants in 2 affected Korean sisters - Lee et al 2016, 2 affected sibs hom missense change - Boccuto et al, 2014 - both had supporting functional studies.

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
Salt and pepper developmental regression syndrome, 609056

Publications

• 15502825
• 22990144
• 24026681

Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in at least 4 unrelated cases.

Created: 16 Oct 2018, 3:39 p.m.

Green List (high evidence)

Seizures are part of the phenotype of this neurodevelopmental disorder.

Created: 22 Aug 2018, 2:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Salt and pepper developmental regression syndrome, MIM#609056

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