Pituitary hormone deficiency
Gene: SHH
SHH (sonic hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000164690
EnsemblGeneIds (GRCh37): ENSG00000164690
OMIM: 600725, Gene2Phenotype
SHH is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000164690
EnsemblGeneIds (GRCh37): ENSG00000164690
OMIM: 600725, Gene2Phenotype
SHH is in 15 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Genomics England PanelApp
- Expert Review Amber
- Phenotypes
-
- Microphthalmia with coloboma 5 (611638)
- Holoprosencephaly 3 (142945)
- OMIM
- 600725
- Clinvar variants
- Variants in SHH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Polydactyly
- Clefting disorders
- BabyScreen+ newborn screening
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Holoprosencephaly and septo-optic dysplasia
- Anophthalmia_Microphthalmia_Coloboma
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Choanal atresia
- Mendeliome
- Polymicrogyria and Schizencephaly
- Callosome
History Filter Activity
13 Jul 2020, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: SHH was added gene: SHH was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHH were set to 22897141 Phenotypes for gene: SHH were set to Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945)