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  3. IHH
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Fetal anomalies

Gene: IHH

Green List (high evidence)
IHH (indian hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000163501
EnsemblGeneIds (GRCh37): ENSG00000163501
OMIM: 600726, Gene2Phenotype
IHH is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for BRACHYDACTYLY, TYPE A1 and Confirmed for ACROCAPITOFEMORAL DYSPLASIA.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame for both disorders.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Acrocapitofemoral dysplasia, OMIM:607778
  • Brachydactyly, type A1, OMIM:112500
OMIM
600726
Clinvar variants
Variants in IHH
Penetrance
None
Panels with this gene

History Filter Activity

14 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IHH were changed from BRACHYDACTYLY, TYPE A1; ACROCAPITOFEMORAL DYSPLASIA to Acrocapitofemoral dysplasia, OMIM:607778; Brachydactyly, type A1, OMIM:112500

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ACROCAPITOFEMORAL DYSPLASIA for gene: IHH

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: IHH was added gene: IHH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IHH were set to BRACHYDACTYLY, TYPE A1