This Panel is marked as Internal
Renal and urinary tract disorders
Gene: SHH
SHH (sonic hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000164690
EnsemblGeneIds (GRCh37): ENSG00000164690
OMIM: 600725, Gene2Phenotype
SHH is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000164690
EnsemblGeneIds (GRCh37): ENSG00000164690
OMIM: 600725, Gene2Phenotype
SHH is in 17 panels
1 review
Helen Stuart (University of Manchester)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- OMIM
- 600725
- Clinvar variants
- Variants in SHH
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- CAKUT
- Holoprosencephaly - NOT chromosomal
- Clefting
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Unexplained kidney failure in young people
- Intellectual disability
- Early onset or syndromic epilepsy
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Currarino triad
- Pituitary hormone deficiency
- Anophthalmia or microphthalmia
History Filter Activity
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen Thomas: Comment on list classification
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SHH was added gene: SHH was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: SHH was set to Unknown