Early onset or syndromic epilepsy
Gene: GLI3
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
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
Comment when marking as ready: Based on reviewers' comments.Created: 11 Dec 2018, 1:21 p.m.
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
Mode of inheritance for gene: GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI3 were changed from to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510
Source Wessex and West Midlands GLH was added to GLI3.
Source NHS GMS was added to GLI3.
Zornitza Stark: Somatic mutations cause hypoth
Gene: gli3 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to GLI3. Panel: Genetic Epilepsy Syndromes
GLI3 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
GLI3 was created by Sarah Leigh