Early onset or syndromic epilepsy
Gene: ST3GAL5
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
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
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.
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
Source Wessex and West Midlands GLH was added to ST3GAL5.
Source NHS GMS was added to ST3GAL5.
Zornitza Stark: Seizures are part of the pheno
Publications for gene: ST3GAL5 were set to
Mode of inheritance for gene: ST3GAL5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056
Gene: st3gal5 has been classified as Green List (High Evidence).
Gene: st3gal5 has been classified as Amber List (Moderate Evidence).
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to ST3GAL5. Panel: Genetic Epilepsy Syndromes
Expert Review Amber was added to ST3GAL5. Panel: Genetic Epilepsy Syndromes
ST3GAL5 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ST3GAL5 was created by Sarah Leigh