Ocular coloboma

Gene: SHH

Red List (low evidence)

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

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Only reported in a few patients. Recognised on G2P as causing coloboma
Created: 16 Nov 2016, 12:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Microphthalmia with coloboma 5, 611638


History Filter Activity

6 Feb 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

SHH was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen