Structural eye disease
Gene: SHH
Two cases published (Schimmenti et al. 2003; Bakrania 2010; we are aware of two additional onesCreated: 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
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 onesCreated: 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
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
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