Currarino triad
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
2 reviews
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
holoprosencephaly; Holoprosencephaly 3
Publications
Rebecca Foulger (Genomics England curator)
SHH is included in the gene panel based on OMIM information for the Currarino triad disorder: several case reports have described sacral agenesis in association with a 7q deletion, covering SHH (also called HPE3/HLP3). PMID:7550324 suggests that Currarino triad disorder and holoprosencephaly are possibly contiguous gene syndromes or even allelic variants.Created: 24 Oct 2016, 8:04 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Other
- Phenotypes
-
- holoprosencephaly
- Holoprosencephaly 3
- OMIM
- 600725
- Clinvar variants
- Variants in SHH
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Currarino triad
- Structural eye disease
- Unexplained young onset end-stage renal disease - additional genes
- Pituitary hormone deficiency
- Clefting
- Holoprosencephaly
- VACTERL-like phenotypes
- CAKUT
- Anophthalmia or microphthalmia
- DDG2P
- Fetal anomalies
- Early onset or syndromic epilepsy
- Ocular coloboma
- Limb disorders
- Intellectual disability
- Unexplained kidney failure in young people
History Filter Activity
3 Nov 2016, Gel status: 0
panel promoted to version 1
Rebecca Foulger (Genomics England curator)3 November 2016: Panel review was assessed and panel was revised according to expert review and additional curation.
24 Oct 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)SHH was created by rfoulger
24 Oct 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)SHH was added to Currarino triadpanel. Sources: Other