Genes in panel
STRs in panel
Prev Next

Limb disorders

Gene: IHH

Green List (high evidence)

IHH (indian hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000163501
EnsemblGeneIds (GRCh37): ENSG00000163501
OMIM: 600726, Gene2Phenotype
IHH is in 9 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)

Green List (high evidence)

Tier 1
Created: 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
Phenotypes
  • Acrocapitofemoral dysplasia 607778
  • Brachydactyly, type A1 112500
  • syndactyly and craniosynostosis
  • F syndrome
Tags
cnv
OMIM
600726
Clinvar variants
Variants in IHH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 3

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

26 Nov 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: IHH were set to 21167467

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

10 Apr 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for IHH were set to Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500; syndactyly and craniosynostosis

10 Apr 2018, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for IHH were set to 21167467

5 Apr 2018, Gel status: 4

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

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to IHH. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IHH was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

IHH was created by Ellen McDonagh