Deafness and congenital structural abnormalities
Gene: LEMD3
Phenotype not relevant to this panelCreated: 17 Oct 2016, 12:41 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Other
Phenotypes do not appear to be relevant to this panelCreated: 19 Sep 2016, 1:40 p.m.
Phenotypes do not appear to be relevant to Familial hemifacial microsomia. Two red reviews on the Bilateral microtia panelCreated: 19 Sep 2016, 8:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Buschke-Ollendorff syndrome 166700, Osteopoikilosis 166700; Melorheostosis with osteopoikilosis 155950
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Buschke-Ollendorff syndrome; Melorheostosis with osteopoikilosis; Osteopoikilosis
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Red gene on the Bilateral microtia (Version 1.10), Ear malformations with hearing impairment (Version 0.103) and Familial hemifacial microsomia (Version 0.148) gene panels which were combined to create this panel.Created: 14 Oct 2016, 1:30 p.m.
Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:58 p.m.
Inheritance:Autosomal dominant;Isolated casesCreated: 9 Feb 2016, 5:16 p.m.
Mode of inheritance
Other
Phenotypes
#155950:Melorheostosis with osteopoikilosis [Contractures over affected bones; Flexion deformities over affected bones; Melorheostosis; Flowing hyperostosis of bone cortex; Osteosclerosis (lesions mainly affect diaphyses of long bones, hands, feet, and pelvis although epiphyses may also be affected); Skin atrophy over affected bones; Sclerotic soft tissue over affected bones]; #166700:Osteopoikilosis [Osteopoikilosis (' spotted bones' ) typically located in epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula; Stiff joints; Osteosclerosis; Melorheostosis, typically affect diaphyses (less common); Subcutaneous nontender firm nodules; Subcutaneous connective tissue nevi; Elastin-rich connective tissue nevi (elastoma); Collagen-rich connective tissue nevi (dermatofibrosis lenticularis disseminata)]
Publications
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Red List (Low Evidence).
Phenotypes for LEMD3 were set to Bilateral Microtia;Buschke-Ollendorff syndrome 166700, Osteopoikilosis 166700;Melorheostosis with osteopoikilosis 155950
Publications for LEMD3 were set to PMID:10671519; 12684533; 12749062; 15489854; 15601644; 17087626; 17223882; 19438932; 19720741; 9295073
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
LEMD3 was created by sleigh
LEMD3 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red