Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: LEMD3

Green List (high evidence)

LEMD3 (LEM domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000174106
EnsemblGeneIds (GRCh37): ENSG00000174106
OMIM: 607844, Gene2Phenotype
LEMD3 is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

BOS is characterized by benign skeletal and cutaneous lesions. Variable expressivity has been reported and skin changes have onset in childhood while bone changes tend to develop after first decade

Established gene-disease association
Created: 30 Jan 2022, 10:19 p.m. | Last Modified: 30 Jan 2022, 10:19 p.m.
Panel Version: 0.10812

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
607844
Clinvar variants
Variants in LEMD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: lemd3 has been classified as Green List (High Evidence).

27 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

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

27 Mar 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: LEMD3 were set to

27 Mar 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: LEMD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LEMD3 was added gene: LEMD3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LEMD3 was set to Unknown