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Genetic epilepsy syndromes

Gene: SHH

Red List (low evidence)

SHH (sonic hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000164690
EnsemblGeneIds (GRCh37): ENSG00000164690
OMIM: 600725, Gene2Phenotype
SHH is in 18 panels

4 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with somatic variants and so not relevant to this panel.
Created: 11 Dec 2018, 2:18 p.m.

Zornitza Stark (Australian Genomics)

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

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

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SHH.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SHH.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Somatic mutations in the Shh p

11 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: shh has been classified as Red List (Low Evidence).

11 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: shh has been classified as Red List (Low Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to SHH. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SHH was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

SHH was created by Sarah Leigh