IHH

indian hedgehog
OMIM: 600726, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red IHH in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.35	review	Not set	Sources Emory Genetics Laboratory
Green IHH in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Review Green London South East RGC GSTT Viapath Phenotypes Acrocapitofemoral dysplasia, OMIM:607778 Brachydactyly, type A1, OMIM:112500 Tags cnv
Green IHH in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Expert list Phenotypes Acrocapitofemoral dysplasia, OMIM:607778 Brachydactyly, type A1, OMIM:112500
Green IHH in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Acrocapitofemoral dysplasia, OMIM:607778 Brachydactyly, type A1, OMIM:112500
Green IHH in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	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
No list IHH in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green IHH in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROCAPITOFEMORAL DYSPLASIA 607778 BRACHYDACTYLY, TYPE A1 112500
Red IHH in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Acrocapitofemoral dysplasia, OMIM:607778 Brachydactyly, type A1, OMIM:112500