Deafness and congenital structural abnormalities

Gene: LEMD3

Red List (low evidence)

Phenotype not relevant to this panel

Created: 17 Oct 2016, 12:41 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Red List (low evidence)

Phenotypes do not appear to be relevant to this panel

Created: 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 panel

Created: 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

I don't know

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.

Red List (low evidence)

Inheritance:Autosomal dominant;Isolated cases

Created: 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

• PMID:10671519
• 12684533
• 12749062
• 15489854
• 15601644
• 17087626
• 17223882
• 19438932
• 19720741
• 9295073

Red List (low evidence)