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  3. SHH
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Structural eye disease

Gene: SHH

Green List (high evidence)
SHH (sonic hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000164690
EnsemblGeneIds (GRCh37): ENSG00000164690
OMIM: 600725, Gene2Phenotype
SHH is in 17 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Two cases published (Schimmenti et al. 2003; Bakrania 2010; we are aware of two additional ones
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Holoprosencephaly-3, 142945; Microphthalmia with coloboma 5, 611638; Single median maxillary central incisor, 147250; Schizencephaly, 269160

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Two cases published (Schimmenti et al. 2003; Bakrania 2010; we are aware of two additional ones
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Holoprosencephaly-3, 142945; Microphthalmia with coloboma 5, 611638; Single median maxillary central incisor, 147250; Schizencephaly, 269160

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Holoprosencephaly-3, 142945
  • Schizencephaly, 269160
  • Single median maxillary central incisor, 147250
  • Microphthalmia with coloboma 5, 611638
OMIM
600725
Clinvar variants
Variants in SHH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SHH. Added phenotypes Holoprosencephaly-3, 142945; Schizencephaly, 269160; Single median maxillary central incisor, 147250; Microphthalmia with coloboma 5, 611638 for gene: SHH Publications for gene SHH were changed from to 20425842; 12503095

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SHH was added gene: SHH was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHH were set to Holoprosencephaly-3, 142945; Microphthalmia with coloboma 5, 611638; Single median maxillary central incisor, 147250; Schizencephaly, 269160