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  3. LEMD3
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Osteopetrosis

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

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3
Created: 20 Aug 2020, 4:32 p.m.
Last Modified: 20 Aug 2020, 4:32 p.m.
Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Osteopoikilosis with or without melorheostosis OMIM:166700
  • Buschke-Ollendorff syndrome OMIM:166700
OMIM
607844
Clinvar variants
Variants in LEMD3
Penetrance
None
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: LEMD3 were changed from Osteopoikilosis with or without melorheostosis 166700; Buschke-Ollendorff syndrome 166700 to Osteopoikilosis with or without melorheostosis OMIM:166700; Buschke-Ollendorff syndrome OMIM:166700

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: LEMD3 was added gene: LEMD3 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LEMD3 were set to Osteopoikilosis with or without melorheostosis 166700; Buschke-Ollendorff syndrome 166700