Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37467-Gain

7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain
PanelMode of inheritanceDetails
2 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype, 174500, Triphalangeal thumbpolysyndactyly syndrome, syndactyly type IV with tibial hypoplasia
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype, 174500, Triphalangeal thumbpolysyndactyly syndrome, syndactyly type IV with tibial hypoplasia