LEMD3

LEM domain containing 3
OMIM: 607844, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green LEMD3 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green LEMD3 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Buschke-Ollendorff syndrome MIM#166700
  • Osteopoikilosis with or without melorheostosis MIM#166700

Green LEMD3 in Osteopetrosis


Level 2: Skeletal disorders
Version 0.34

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Buschke-Ollendorff syndrome MIM#166700
  • Osteopoikilosis with or without melorheostosis MIM#166700

Green LEMD3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Melorheostosis with osteopoikilosis 155950 IC
  • Osteopoikilosis 166700
  • Buschke-Ollendorff syndrome 166700

Red LEMD3 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Buschke-Ollendorff syndrome MIM#166700
  • Osteopoikilosis with or without melorheostosis MIM#166700