Clefting
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 Brittain (Genomics England Curator)
Causation clear. Cleft is a reported feature in someCreated: 26 May 2017, 7:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HOLOPROSENCEPHALY 3; HPE3
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- HOLOPROSENCEPHALY 3
- HPE3
- 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
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)SHH was created by helen.brittain
26 May 2017, Gel status: 4
Added New Source
Helen Brittain (Genomics England Curator)SHH was added to Cleftingpanel. Sources: Expert Review Green