Genomics England
GMS Panels
Panels
Genes and Entities

LDB3

LIM domain binding 3
OMIM: 605906
PanelMode of inheritanceDetails
2 panels
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, myofibrillar 4, 609452
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 1C, with or without LVNC, OMIM:601493, dilated cardiomyopathy, MONDO:0005021