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Osteopetrosis
Gene: LEMD3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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: 28 Mar 2022, 4:12 a.m. | Last Modified: 28 Mar 2022, 4:12 a.m.

Panel Version: 0.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 28 Mar 2022, 4:12 a.m.
Last Modified: 28 Mar 2022, 4:12 a.m.
Panel version: 0.13

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

Clinvar variants

Variants in LEMD3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LEMD3 were set to

28 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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