Skeletal dysplasia
Gene: IHH
Acromelic dysplasias gp of SD, brachydactylies (without extraskeletal manifestations) gp of SD, polydactyly-syndactyly-triphalangism SD gp. BDA1 - missense variants in amino-terminal signaling domain. ACFD - missense variants. Dups of promoter region 49kb upstream associated with craniosynostosis.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500
Mode of pathogenicity
Other - please provide details in the comments
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IHH; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 8:41 a.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: IHH were changed from Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500 to Acrocapitofemoral dysplasia, OMIM:607778; Brachydactyly, type A1, OMIM:112500
Added phenotypes Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500 for gene: IHH
Source NHS GMS was added to IHH. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for IHH were set to Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500
Mode of inheritance for IHH was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IHH was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
IHH was added to Unexplained skeletal dysplasiapanel. Sources:
IHH was created by sleigh