Bilateral microtia

Gene: LEMD3

Red List (low evidence)

LEMD3 (LEM domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000174106
EnsemblGeneIds (GRCh37): ENSG00000174106
OMIM: 607844, Gene2Phenotype
LEMD3 is in 8 panels

2 reviews

Jun Shen (Harvard Medical School)

Red List (low evidence)

Inheritance:Autosomal dominant;Isolated cases
Created: 9 Feb 2016, 5:16 p.m.

Mode of inheritance

#155950:Melorheostosis with osteopoikilosis [Contractures over affected bones; Flexion deformities over affected bones; Melorheostosis; Flowing hyperostosis of bone cortex; Osteosclerosis (lesions mainly affect diaphyses of long bones, hands, feet, and pelvis although epiphyses may also be affected); Skin atrophy over affected bones; Sclerotic soft tissue over affected bones]; #166700:Osteopoikilosis [Osteopoikilosis (' spotted bones' ) typically located in epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula; Stiff joints; Osteosclerosis; Melorheostosis, typically affect diaphyses (less common); Subcutaneous nontender firm nodules; Subcutaneous connective tissue nevi; Elastin-rich connective tissue nevi (elastoma); Collagen-rich connective tissue nevi (dermatofibrosis lenticularis disseminata)]


Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

History Filter Activity

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LEMD3 was added to Bilateral Microtiapanel. Sources: Expert list