Limb disorders
Gene: IHHEnsemblGeneIds (GRCh38): ENSG00000163501
EnsemblGeneIds (GRCh37): ENSG00000163501
OMIM: 600726, Gene2Phenotype
IHH is in 8 panels
3 reviews
Eleanor Williams (Genomics England Curator)
PMID: 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
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 8:41 a.m.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Acrocapitofemoral dysplasia, OMIM:607778
- Brachydactyly, type A1, OMIM:112500
- Tags
- OMIM
- 600726
- Clinvar variants
- Variants in IHH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: IHH were set to 21167467
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IHH were set to Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500; syndactyly and craniosynostosis
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IHH were set to 21167467
Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to IHH. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)IHH was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)IHH was created by Ellen McDonagh