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  3. LMX1B
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Skeletal dysplasia

Gene: LMX1B

Green List (high evidence)
LMX1B (LIM homeobox transcription factor 1 beta)
EnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. Some variants in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy).

>300 families reported.
Created: 4 Nov 2020, 9:46 p.m. | Last Modified: 4 Nov 2020, 9:46 p.m.
Panel Version: 0.5327

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020

Publications

Created: 4 Nov 2020, 9:42 p.m.
Last Modified: 4 Nov 2020, 9:42 p.m.
Panel version: Imported from Mendeliome panel version 0.5589

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported.
Created: 14 Oct 2020, 6:35 a.m. | Last Modified: 14 Oct 2020, 6:35 a.m.
Panel Version: 0.4903

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Nail-patella syndrome (MIM#161200); LMX1B-related nephropathy

Publications

Created: 14 Oct 2020, 6:35 a.m.
Last Modified: 14 Oct 2020, 6:35 a.m.
Panel version: Imported from Mendeliome panel version 0.4903

Details

Mode of Inheritance
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
OMIM
602575
Clinvar variants
Variants in LMX1B
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LMX1B was added gene: LMX1B was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMX1B were set to Nail-patella syndrome 161200; Nail-patella syndrome 161200