Skeletal Dysplasia_Fetal
Gene: IHHEnsemblGeneIds (GRCh38): ENSG00000163501
EnsemblGeneIds (GRCh37): ENSG00000163501
OMIM: 600726, Gene2Phenotype
IHH is in 6 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Antenatal diagnosis of shortened limbs and digital anomalies described.
Sources: LiteratureCreated: 8 Nov 2022, 3:46 a.m.
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
- PMID: 22406540
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Acrocapitofemoral dysplasia - MIM#607778
- Brachydactyly, type A1 - MIM#112500
- OMIM
- 600726
- Clinvar variants
- Variants in IHH
- Penetrance
- None
- Publications
-
- PMID: 22406540
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ihh has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ihh has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: IHH was added gene: IHH was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: IHH were set to PMID: 22406540 Phenotypes for gene: IHH were set to Acrocapitofemoral dysplasia - MIM#607778; Brachydactyly, type A1 - MIM#112500 Review for gene: IHH was set to GREEN