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Severe Paediatric Disorders

Gene: SHH

Green List (high evidence)

SHH (sonic hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000164690
EnsemblGeneIds (GRCh37): ENSG00000164690
OMIM: 600725, Gene2Phenotype
SHH is in 18 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SHH; Recommended initial gene rating: Green List (high evidence); Phenotypes: Holoprosencephaly 3, 142945 (3) | Microphthalmia with coloboma 5, 611638 (3) | Schizencephaly, 269160 (3) | Single median maxillary central incisor, 147250 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | ND | Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Single median maxillary central incisor, 147250
  • Holoprosencephaly 3, 142945
  • Microphthalmia with coloboma 5, 611638
  • Schizencephaly, 269160
OMIM
600725
Clinvar variants
Variants in SHH
Penetrance
None
Publications
Panels with this gene