Multiple monogenic benign skin tumours
Gene: LEMD3

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

In addition to being on the original list (25.Jan.2019), this gene was part of a revised gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 18.Feb.2019 on behalf of the GMS Skin Specialist Test Group. The revised list more accurately matches Clinical Indication R230. Gene Symbol submitted: LEMD3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 19 Feb 2019, 7:43 p.m.

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: LEMD3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 29 Jan 2019, 10:38 a.m.

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

Created: 29 Jan 2019, 10:38 a.m.

Panel version: 0.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

London North GLH
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

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LEMD3 were changed from Osteopoikilosis with or without melorheostosis(166700); BUSCHKE-OLLENDORFF SYNDROME to Osteopoikilosis with or without melorheostosis, OMIM:166700; BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to LEMD3.

29 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: LEMD3 was added gene: LEMD3 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LEMD3 were set to Osteopoikilosis with or without melorheostosis(166700); BUSCHKE-OLLENDORFF SYNDROME

Multiple monogenic benign skin tumours Gene: LEMD3