Skeletal dysplasia
Gene: LEMD3

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

Created: 30 Jan 2022, 10:19 p.m.
Last Modified: 30 Jan 2022, 10:19 p.m.
Panel version: Imported from Mendeliome panel version 0.10812

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

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LEMD3 was added gene: LEMD3 was added to 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

Skeletal dysplasia Gene: LEMD3