LMBR1

limb development membrane protein 1
OMIM: 605522, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green LMBR1 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Laurin-Sandrow syndrome,135750
  • Triphalangeal thumb type I,174500
  • Triphalangeal Thumb-Polysyndactyly Syndrome

Red LMBR1 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review Not set
Sources
  • Emory Genetics Laboratory

Green LMBR1 in Limb disorders


Version 2.48
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Polydactyly
    • Syndactyly, type IV 186200
    • Laurin-Sandrow syndrome,135750
    • Acheiropody 200500
    • Triphalangeal thumb type I,174500
    • Triphalangeal thumb, type I 174500
    • Laurin-Sandrow syndrome 135750
    • Polydactyly, preaxial type II 174500
    • Hypoplastic or aplastic tibia with polydactyly 188740
    • Triphalangeal thumb-polysyndactyly syndrome 174500
    • Triphalangeal Thumb-Polysyndactyly Syndrome

    Green LMBR1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.110
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Laurin-Sandrow syndrome 135750
    • Polydactyly, preaxial type II 174500
    • Hypoplastic or aplastic tibia with polydactyly 188740
    • Triphalangeal thumb, type I 174500
    • Triphalangeal thumb-polysyndactyly syndrome 174500
    • Syndactyly, type IV 186200
    • Acheiropody 200500

    Green LMBR1 in Fetal anomalies


    Version 1.698
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Triphalangeal thumb-polysyndactyly syndrome 174500
    • Laurin-Sandrow syndrome 135750
    • Hypoplastic or aplastic tibia with polydactyly 188740
    • Syndactyly, type IV 186200
    • Triphalangeal thumb, type I 174500
    • Polydactyly, preaxial type II 174500
    • Acheiropody 200500

    Green LMBR1 in Severe Paediatric Disorders


    Version 1.81

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Syndactyly, type IV, 186200
    • Hypoplastic or aplastic tibia with polydactyly, 188740
    • Triphalangeal thumb, type I, 174500
    • Triphalangeal thumb-polysyndactyly syndrome, 174500
    • Polydactyly, preaxial type II, 174500
    • Laurin-Sandrow syndrome, 135750
    • Acheiropody, 200500