Ocular coloboma
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
Alice Gardham (Genomics England)
Only reported in a few patients. Recognised on G2P as causing colobomaCreated: 16 Nov 2016, 12:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia with coloboma 5, 611638
Publications
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160
- OMIM
- 600725
- Clinvar variants
- Variants in SHH
- Penetrance
- Complete
- Panels with this gene
-
- VACTERL-like phenotypes
- CAKUT
- Holoprosencephaly - NOT chromosomal
- Clefting
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Early onset or syndromic epilepsy
- Unexplained kidney failure in young people
- Intellectual disability
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Currarino triad
- Pituitary hormone deficiency
- Anophthalmia or microphthalmia
History Filter Activity
6 Feb 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SHH was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen