Skeletal dysplasia

Gene: SHH

Comment when marking as ready: Not associated with relevant phenotype on G2P or OMIM. Single variant reported in Preaxial polydactyly type 1

Created: 12 Jul 2016, 1:02 p.m.

Comment on phenotypes: Variants in SHH associated with the following phenotypes, which are not relevant for Skeletal dysplasia: Holoprosencephaly 3 142945; Microphthalmia with coloboma 5 611638; Schizencephaly 269160; Single median maxillary central incisor 147250

Created: 12 Jul 2016, 1:01 p.m.

Comment on publications: Report of 2 kb deletion located ~240 kb upstream from the SHH promoter.

Created: 12 Jul 2016, 12:58 p.m.

Green List (high evidence)

Tier 2

Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Petit F, et al. The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis. Eur J Hum Genet. 2016 Jan 24(1), 37-43; Holoprosencephaly 3 142945; Microphthalmia with coloboma 5 611638; Schizencephaly 269160; Single median maxillary central incisor 147250

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