Pituitary hormone deficiency
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
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from red to amber. SHH is confirmed to be associated with Holoprosencephaly 3 in OMIM but not in Gene2Phenotype. It is also a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one report where two unrelated Dutch patients with combined pituitary hormone deficiency had variants in SHH. One missense variant is predicted to be pathogenic and another variant in the 3' UTR region was shown to decrease SHH expression in in vitro tests.Created: 12 Dec 2018, 12:03 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Radboud University Medical Center
- UKGTN
- Phenotypes
-
- Microphthalmia with coloboma 5 (611638)
- Holoprosencephaly 3 (142945)
- Tags
- OMIM
- 600725
- Clinvar variants
- Variants in SHH
- Penetrance
- None
- Publications
- 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
30 Jan 2019, Gel status: 2
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Comment on list classification
8 Jan 2019, Gel status: 2
Added Tag
Ivone Leong (Genomics England Curator)Tag watchlist tag was added to gene: SHH.
8 Jan 2019, Gel status: 2
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: shh has been classified as Amber List (Moderate Evidence).
12 Dec 2018, Gel status: 2
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: shh has been classified as Amber List (Moderate Evidence).
12 Dec 2018, Gel status: 1
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SHH were set to
7 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SHH was added gene: SHH was added to Pituitary hormone deficiency. Sources: UKGTN,Radboud University Medical Center Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHH were set to Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945)