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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. LEMD3
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: LEMD3

Green List (high evidence)
LEMD3 (LEM domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000174106
EnsemblGeneIds (GRCh37): ENSG00000174106
OMIM: 607844, Gene2Phenotype
LEMD3 is in 7 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Osteopetrosis and related disorders SD gp >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Buschke-Ollendorff syndrome 166700; Melorheostosis with osteopoikilosis 155950 IC; Osteopoikilosis 166700

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Melorheostosis with osteopoikilosis 155950 IC
  • Osteopoikilosis 166700
  • Buschke-Ollendorff syndrome 166700
OMIM
607844
Clinvar variants
Variants in LEMD3
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: LEMD3 was added gene: LEMD3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LEMD3 were set to Melorheostosis with osteopoikilosis 155950 IC; Osteopoikilosis 166700; Buschke-Ollendorff syndrome 166700