Multiple monogenic benign skin tumours
Gene: LEMD3
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
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
Source London North GLH was added to LEMD3.
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