IHH

indian hedgehog
OMIM: 600726, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green IHH in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 review	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
Green IHH in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.72	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Craniosynostosis, Philadelphia type Tags SV/CNV 5'UTR
Green IHH in Mendeliome Version 1.3499	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acrocapitofemoral dysplasia MIM#607778 Brachydactyly, type A1 MIM#112500
Green IHH in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Phenotypes Acrocapitofemoral dysplasia 607778 Brachydactyly, type A1 112500
Green IHH in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.78 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Brachydactyly, type A1 112500 Acrocapitofemoral dysplasia 607778
Green IHH in Fetal anomalies Version 1.465	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Acrocapitofemoral dysplasia MIM#607778 Brachydactyly, type A1 MIM#112500