Genomics England
GMS Panels
Panels
Genes and Entities

LEMD3

LEM domain containing 3
OMIM: 607844
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MELORHEOSTOSIS 155950, BUSCHKE-OLLENDORFF SYNDROME 166700
Green
in Multiple monogenic benign skin tumours
R-numbers: R230
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Osteopoikilosis with or without melorheostosis, OMIM:166700, BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700
Green
in Osteopetrosis
R-numbers: R104.4
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Osteopoikilosis with or without melorheostosis 166700, Buschke-Ollendorff syndrome 166700
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Melorheostosis with osteopoikilosis 155950 IC, Osteopoikilosis 166700, Buschke-Ollendorff syndrome 166700