Early onset or syndromic epilepsy

Gene: SHH

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: Amber.

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

Panel Version: 1.189

I don't know

Assuming holoprosencephaly is to be included in this panel then this gene should be included. AD holoprosencephaly, AD micropthalmia with coloboma & AD single median maxillary central incisor. Epilepsy/seizures not a feature of these - don't include.

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
Holoprosencephaly 3, 142945 ; Microphthalmia with coloboma 5, 611638 ; Schizencephaly, 269160 ; Single median maxillary central incisor, 147250

Publications

• 8896572

Comment when marking as ready: Associated with somatic variants and so not relevant to this panel.

Created: 11 Dec 2018, 2:18 p.m.

I don't know

Somatic mutations in the Shh pathway genes underlie hypothalamic hamartoma and gelastic seizures.

Created: 21 Aug 2018, 9:27 a.m.

Mode of inheritance
Other

Phenotypes
Hypothalamic hamartoma

Publications

• 27453577

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