This Panel is marked as Internal
Non-Fanconi anaemia
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
Mark Greenslade (Bristol Genetics Laboratory)
Does not meet clinical inclusion criteria.Created: 16 Oct 2015, 1:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Limb Malformation
- OMIM
- 600725
- Clinvar variants
- Variants in SHH
- Penetrance
- Complete
- Panels with this gene
-
- Anophthalmia or microphthalmia
- CAKUT
- VACTERL-like phenotypes
- Unexplained kidney failure in young people
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Structural eye disease
- Fetal anomalies
- Currarino triad
- Pituitary hormone deficiency
- Skeletal dysplasia
History Filter Activity
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SHH was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SHH was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory