1. Genes and Genomic Entities
  2. LMBRD1

LMBRD1

LMBR1 domain containing 1
OMIM: 612625, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red LMBRD1 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.22

review Not set
Sources
  • Emory Genetics Laboratory
Green LMBRD1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblF type 277380
Green LMBRD1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, cblF type, 277380
    Green LMBRD1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF
    Green LMBRD1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF 277380
    Amber LMBRD1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO
    • Methylmalonic aciduria and homocystinuria, cblF type, 277380
    Red LMBRD1 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH