LEMD3

LEM domain containing 3
OMIM: 607844, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red LEMD3 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Buschke-Ollendorff syndrome 166700, Osteopoikilosis 166700
  • Melorheostosis with osteopoikilosis 155950
Green LEMD3 in Multiple monogenic benign skin tumours


Version 2.4
Latest signed off version: v2.0 (30 Nov 2022)

review 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
Green LEMD3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.52
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Melorheostosis with osteopoikilosis 155950 IC
    • Osteopoikilosis 166700
    • Buschke-Ollendorff syndrome 166700
    Red LEMD3 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MELORHEOSTOSIS
    • BUSCHKE-OLLENDORFF SYNDROME
    Green LEMD3 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MELORHEOSTOSIS 155950
    • BUSCHKE-OLLENDORFF SYNDROME 166700
    Red LEMD3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Osteopoikilosis, 166700
    • Buschke-Ollendorff syndrome, 166700
    • Melorheostosis with osteopoikilosis, 155950
    Green LEMD3 in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Buschke-Ollendorff syndrome, 166700
    • Osteopoikilosis with or without melorheostosis, 166700
    Green LEMD3 in Osteopetrosis

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.34
    Latest signed off version: v1.1 (21 Sep 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Osteopoikilosis with or without melorheostosis OMIM:166700
    • Buschke-Ollendorff syndrome OMIM:166700