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Monogenic short stature

Gene: IHH

No list

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

1 review

Melissa Connolly (WMRGL GLH)

Green List (high evidence)

Gene included in a list of the ten most prevalent genetic causes of isolated short stature in the International guideline on genetic testing of children with Short stature (Supplementary information 4). Text references reports of patients with isolated short stature with or without skeletal findings.
Sources: Expert Review
Created: 17 Sep 2026, 1:41 p.m. | Last Modified: 17 Sep 2026, 5:32 p.m.
Panel Version: 2.9

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
ACROCAPITOFEMORAL DYSPLASIA; BRACHYDACTYLY, TYPE A1

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • ACROCAPITOFEMORAL DYSPLASIA
  • BRACHYDACTYLY, TYPE A1
OMIM
600726
Clinvar variants
Variants in IHH
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Sep 2026, Gel status: 0

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

Melissa Connolly (WMRGL GLH)

gene: IHH was added gene: IHH was added to Monogenic short stature. Sources: Expert Review Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IHH were set to PMID: 41543979 Phenotypes for gene: IHH were set to ACROCAPITOFEMORAL DYSPLASIA; BRACHYDACTYLY, TYPE A1 Penetrance for gene: IHH were set to Complete Review for gene: IHH was set to GREEN