Limb disorders
Gene: IHHPMID: 25959774 - Lupiáñez et al 2015 - further 2 cases in which duplications which include IHH are seen in patients with F-syndrome, a limb malformation syndrome characterized by severe and complex syndactyly, often involving the first and second fingers, and polydactyly of the feet.Created: 26 Nov 2019, 11:06 p.m. | Last Modified: 26 Nov 2019, 11:06 p.m.
Panel Version: 1.127
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; syndactyly and craniosynostosis; F syndrome to Acrocapitofemoral dysplasia, OMIM:607778; Brachydactyly, type A1, OMIM:112500
Phenotypes for gene: IHH were changed from Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500; syndactyly and craniosynostosis to Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500; syndactyly and craniosynostosis; F syndrome
Publications for gene: IHH were set to 21167467
Ana Beleza: Tier 1
Phenotypes for IHH were set to Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500; syndactyly and craniosynostosis
Publications for IHH were set to 21167467
Expert Review Green was added to IHH. Panel: Limb disorders UKGTN was added to IHH. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to IHH. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to IHH. Panel: Limb disorders Expert list was added to IHH. Panel: Limb disorders Emory Genetics Laboratory was added to IHH. Panel: Limb disorders Model of inheritance for gene IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
London South East RGC GSTT was added to IHH. Panel: Limb disorders
IHH was added to Limb disorders panel. Sources: Viapath
IHH was created by Ellen McDonagh