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Fetal anomalies

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
DDG2P rating in original PAGE list: Confirmed for TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, Confirmed for MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5, Confirmed for SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR and Confirmed for HOLOPROSENCEPHALY TYPE 3.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Cis-regulatory or promotor mutation for TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, and listed as Uncertain for MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5. Listed as LOF for SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR and HOLOPROSENCEPHALY TYPE 3.
Created: 8 Nov 2018, 4:45 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HOLOPROSENCEPHALY TYPE 3
  • TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME
  • MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5
  • SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
OMIM
600725
Clinvar variants
Variants in SHH
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes HOLOPROSENCEPHALY TYPE 3 for gene: SHH

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR for gene: SHH

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 for gene: SHH

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SHH was added gene: SHH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHH were set to TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME