Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: IHH
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 WilkieCreated: 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
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: greenCreated: 5 Mar 2019, 11:21 a.m.
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.
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
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
Added phenotypes chr2q35dup syndrome 185900; Acrocapitofermoral dysplasia 607778; bracydactyly type A1 112500 for gene: IHH
Source NHS GMS was added to IHH. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for IHH were set to 185900
Phenotypes for IHH were set to 185900
Publications for IHH were set to 25692887; 21167467
Mode of pathogenicity for IHH was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for IHH was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
IHH was added to Craniosynostosis syndromespanel. Sources: Expert list