Skeletal dysplasia
Gene: LEMD3
Osteopetrosis and related disorders SD gp >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Buschke-Ollendorff syndrome 166700; Melorheostosis with osteopoikilosis 155950 IC; Osteopoikilosis 166700
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LEMD3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:55 p.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Buschke-Ollendorff syndrome 166700; Melorheostosis with osteopoikilosis 155950 IC ; Osteopoikilosis 166700;
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Melorheostosis with osteopoikilosis 155950 IC; Osteopoikilosis 166700; Buschke-Ollendorff syndrome 166700 for gene: LEMD3
Source NHS GMS was added to LEMD3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for LEMD3 were set to Buschke-Ollendorff syndrome 166700; Melorheostosis with osteopoikilosis 155950 IC ; Osteopoikilosis 166700;
Phenotypes for LEMD3 were set to Buschke-Ollendorff syndrome 166700; Melorheostosis with osteopoikilosis 155950 IC ; Osteopoikilosis 166700;
Mode of inheritance for LEMD3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
LEMD3 was added to Unexplained skeletal dysplasiapanel. Sources:
LEMD3 was created by sleigh