PanelApp (staging)
  1. Genes and Genomic Entities
  2. LMX1B

LMX1B

LIM homeobox transcription factor 1 beta
OMIM: 602575, ClinGen, DECIPHER

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red LMX1B in Haematuria_Alport


Level 2: Renal and urinary tract disorders
Version 1.1

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  1 review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services

    Green LMX1B in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.416

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nail-patella syndrome, MIM# 161200, MONDO:0008061

    Amber LMX1B in Cataract


    Level 2: Ophthalmological disorders
    Version 0.373

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nail-patella syndrome, MIM# 161200

    Amber LMX1B in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.68

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Coronal craniosynostosis

    Green LMX1B in Glaucoma congenital


    Level 2: Ophthalmological disorders
    Version 1.9

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nail-patella syndrome, MIM# 161200

    Green LMX1B in Mendeliome


    Version 1.2302

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nail-patella syndrome (MIM#161200), MONDO:0008061
    • LMX1B-related nephropathy
    • Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020

    Green LMX1B in Proteinuria


    Level 2: Renal and urinary tract disorders
    Version 0.229

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nail-patella syndrome (MIM#161200), MONDO:0008061
    • LMX1B-related nephropathy
    • Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020

    Red LMX1B in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Focal segmental glomerulosclerosis 10 MIM#256020
    • Nail-patella syndrome MIM#161200

    Green LMX1B in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.210

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Nail-patella syndrome (MIM#161200), MONDO:0008061

    Green LMX1B in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nail-patella syndrome 161200
    • Nail-patella syndrome 161200

    Green LMX1B in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Nail patella syndrome

    Red LMX1B in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Nail-patella syndrome, 161200

    Green LMX1B in Fetal anomalies


    Version 1.313

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Nail-patella syndrome, MIM# 161200, MONDO:0008061

    Red LMX1B in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Nail-patella syndrome, MIM# 161200, MONDO:0008061

    Red LMX1B in Spontaneous coronary artery dissection


    Level 2: Cardiovascular disorders
    Version 0.56

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Nail-patella syndrome MIM#161200