1. Panels
  2. Anophthalmia or microphthalmia
  3. SHH
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Anophthalmia or microphthalmia

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

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

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

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

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and lit evidence
Created: 10 May 2016, 12:16 p.m.
Created: 10 May 2016, 12:16 p.m.

Panel version: 0.42

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160
OMIM
600725
Clinvar variants
Variants in SHH
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 1

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for SHH was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SHH was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen