Early onset or syndromic epilepsy
Gene: SHH
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
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
Comment when marking as ready: Associated with somatic variants and so not relevant to this panel.Created: 11 Dec 2018, 2:18 p.m.
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
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to SHH.
Source NHS GMS was added to SHH.
Zornitza Stark: Somatic mutations in the Shh p
Gene: shh has been classified as Red List (Low Evidence).
Gene: shh has been classified as Red List (Low Evidence).
Expert Review Amber was added to SHH. Panel: Genetic Epilepsy Syndromes
SHH was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
SHH was created by Sarah Leigh