Skeletal dysplasiaGene: 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.
Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Promoted to version 1 9th August 2016
Mode of inheritance for SHH was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
Phenotypes for SHH were set to Preaxial polydactyly type 1 (PPD1)
Publications for SHH were set to 25782671
SHH was added to Unexplained skeletal dysplasiapanel. Sources:
SHH was created by sleigh