Holoprosencephaly - NOT chromosomal
Gene: SHHEnsemblGeneIds (GRCh38): ENSG00000164690
EnsemblGeneIds (GRCh37): ENSG00000164690
OMIM: 600725, Gene2Phenotype
SHH is in 17 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 GreenCreated: 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 practiceCreated: 30 May 2017, 2:56 p.m.
Lara Menzies (Great Ormond Street Hospital )
strong evidenceCreated: 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
-
- NHS GMS
- 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
-
- Structural eye disease
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Currarino triad
- Pituitary hormone deficiency
- Holoprosencephaly - NOT chromosomal
- Anophthalmia or microphthalmia
- Intellectual disability
- CAKUT
- VACTERL-like phenotypes
- Limb disorders
- Unexplained kidney failure in young people
- DDG2P
- Ocular coloboma
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SHH.
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted to version one after review within the genomics England curation team.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SHH were set to Holoprosencephaly-3; Holoprosencephaly; Holoprosencephaly 3, 142945
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)SHH was added to Holoprosencephalypanel. Source: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)SHH was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SHH was added to Holoprosencephalypanel. Sources: UKGTN,Other