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Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: IHH

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Green for promoter region 40kb upstream of IHH only. Duplications of 2q35-q36.3 encompassing region 40kb upstream of IHH (within intron of NHEJ1 gene). Variants within the gene are associated with a different phenotype. ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acrocapitofermoral dysplasia 607778, bracydactyly type A1 (112500), chr2q35dup syndrome(185900)

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IHH; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Richard Scott (Genomics England Curator)

Comment on mode of pathogenicity: Craniosynostosis occurs in association with copy number duplications in cis to IHH that affect its regulation. Intragenic mutations are not associated with craniosynostosis, but cause different phenotypes (brachydactyly type A1 and acrocapitofemoral dysplasia)
Created: 1 Feb 2016, 11:17 a.m.

Created: 1 Feb 2016, 11:17 a.m.

Panel version: 0.78

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Craniosynostosis occurs in association with copy number duplications in cis to IHH that affect its regulation. Intragenic mutations are not associated with craniosynostosis, but cause different phenotypes (brachydactyly type A1 and acrocapitofemoral dysplasia)
Created: 15 Sep 2015, 7:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Philadephia craniosynostosis

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 15 Sep 2015, 7:43 a.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Expert list

Phenotypes

Syndactyly, type 1, with or without craniosynostosis, OMIM:185900
Chr2q35dup syndrome

OMIM

600726

Clinvar variants

Variants in IHH

Penetrance

Complete

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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 185900; chr2q35dup syndrome 185900; Acrocapitofermoral dysplasia 607778; bracydactyly type A1 112500 to Syndactyly, type 1, with or without craniosynostosis, OMIM:185900; Chr2q35dup syndrome

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes chr2q35dup syndrome 185900; Acrocapitofermoral dysplasia 607778; bracydactyly type A1 112500 for gene: IHH

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to IHH. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Feb 2016, Gel status: 4