Unexplained kidney failure in young people
Gene: LMX1BEnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 13 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 4 Aug 2016, 2:10 p.m.
Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panelCreated: 17 Jun 2016, 9:20 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Phenotypes
-
- Nail-patella syndrome 161200
- OMIM
- 602575
- Clinvar variants
- Variants in LMX1B
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Structural eye disease
- Arthrogryposis
- Intellectual disability
- Fetal anomalies
- Proteinuric renal disease
- Glaucoma (developmental)
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Clefting
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: LMX1B were changed from Nail-patella syndrome 161200 to Nail-patella syndrome 161200
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)LMX1B was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for LMX1B were set to Nail-patella syndrome 161200
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for LMX1B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Sarah Leigh (Genomics England Curator)LMX1B was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)LMX1B was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing