Early onset or syndromic epilepsy

Gene: GLI3

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: Alison Callaway and John Taylor. Suggested gene rating: Red.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Red List (low evidence)

Majority of disease-causing variants are either associated with Pallister-Hall syndrome (a feature of which is hypothalamic hamartomas, which could lead to seizures) or Greig cephalopolysyndactyly. There is insufficient evidence to suggest that seizures are a specific phenotype associated with the GLI3 gene.

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
Greig cephalopolysyndactyly syndrome, 175700; {Hypothalamic hamartomas, somatic}, 241800 ; Pallister-Hall syndrome, 146510; Polydactyly postaxial types A1 and B, 174200; Polydactyly preaxial type IV, 174700

Publications

• 11484201

Comment when marking as ready: Based on reviewers' comments.

Created: 11 Dec 2018, 1:21 p.m.

I don't know

Somatic mutations cause hypothalamic hamartoma and gelastic seizures, but not convinced this belongs on the panel.

Created: 14 Aug 2018, 10:03 a.m.

Mode of inheritance
Other

Publications

• 18057317