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Skeletal dysplasia

Gene: IHH

Green List (high evidence)

IHH (indian hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000163501
EnsemblGeneIds (GRCh37): ENSG00000163501
OMIM: 600726, Gene2Phenotype
IHH is in 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

3 families reported for Acrocapitofemoral dysplasia (MIM#607778) (Asp100Glu, Asp100Asn and Arg160Cys).

Short stature and/or mild skeletal hand defects caused by monoallelic variants in IHH
Created: 22 Nov 2021, 1:04 a.m. | Last Modified: 22 Nov 2021, 1:04 a.m.
Panel Version: 0.9779

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Acrocapitofemoral dysplasia MIM#607778; Brachydactyly, type A1 MIM#112500

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Acrocapitofemoral dysplasia 607778
  • Brachydactyly, type A1 112500
OMIM
600726
Clinvar variants
Variants in IHH
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IHH was added gene: IHH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IHH were set to Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500