Genomics England
GMS Panels
Panels
Genes and Entities

IHH

indian hedgehog
OMIM: 600726
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ACROCAPITOFEMORAL DYSPLASIA 607778, BRACHYDACTYLY, TYPE A1 112500
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acrocapitofemoral dysplasia, OMIM:607778, Brachydactyly, type A1, OMIM:112500
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acrocapitofemoral dysplasia, OMIM:607778, Brachydactyly, type A1, OMIM:112500
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Syndactyly, type 1, with or without craniosynostosis, OMIM:185900, Chr2q35dup syndrome
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acrocapitofemoral dysplasia, OMIM:607778, Brachydactyly, type A1, OMIM:112500