Holoprosencephaly

Gene: SHH

Green List (high evidence)

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

4 reviews

Louise Daugherty (Genomics England Curator)

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:14 p.m. | Last Modified: 29 Jul 2019, 2:14 p.m.
Panel Version: 1.20

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Green review, strong evidence, diagnostic grade test in clinical practice
Created: 30 May 2017, 2:56 p.m.

Lara Menzies (Great Ormond Street Hospital )

Green List (high evidence)

strong evidence
Created: 30 May 2017, 2:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Holoprosencephaly-3; Holoprosencephaly

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

Ellen McDonagh (Genomics England Curator)

Phenotype and mode of inheritance sourced from OMIM. This gene is on the UKGTN Holoprosencephaly 6 Gene Panel and the Nonsyndromic Holoprosencephaly 6 Gene Panel.
Created: 8 Jan 2016, 1:38 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
Phenotypes
  • Holoprosencephaly-3
  • Holoprosencephaly
  • Holoprosencephaly 3, 142945
OMIM
600725
Clinvar variants
Variants in SHH
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SHH.

31 May 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted to version one after review within the genomics England curation team.

31 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SHH were set to Holoprosencephaly-3; Holoprosencephaly; Holoprosencephaly 3, 142945

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Dec 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

SHH was added to Holoprosencephalypanel. Source: Radboud University Medical Center, Nijmegen

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SHH was created by ellenmcdonagh

8 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SHH was added to Holoprosencephalypanel. Sources: UKGTN,Other