Proteinuric renal disease
Gene: LMX1BEnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 13 panels
4 reviews
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: LMX1B; Suggested initial gene rating: green; Evidence for inclusion: none provided; Other comments: Some variants in this gene assoicated with renal phenotype only, without typical NPS featuresCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nail-patella syndrome #161200
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on mode of pathogenicity: Missense mutations cause the non-syndromic form of the conditionCreated: 27 May 2016, 12:28 p.m.
Comment on list classification: Current diagnosticCreated: 27 May 2016, 12:28 p.m.
Maggie Williams (North Bristol NHS Trust)
3 cases of R246 diagnosed on UK renal panelCreated: 19 Oct 2015, 2:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nail–patella syndrome; isolated glomerulopathy
Publications
- Nephrol Dial Transplant (2014) 29: 81–88
Variants in this GENE are reported as part of current diagnostic practice
Daniel Gale (UCL)
Disease is caused by haploinsufficiency. Missense mutations at or near p.R246 are presumed hypomorphic and are associated with renal-limited disease (ie no nail or patella abnormalities).Created: 7 Oct 2015, 11:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nail patella syndrome; FSGS; proteinuria; kidney failure
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Nail-patella syndrome #161200
- FSGS
- proteinuria
- kidney failure
- isolated glomerulopathy
- OMIM
- 602575
- Clinvar variants
- Variants in LMX1B
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- 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 to Nail-patella syndrome #161200; FSGS; proteinuria; kidney failure; isolated glomerulopathy
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: LMX1B were set to
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to LMX1B. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set mode of pathogenicity
Ellen Thomas (Genomics England Curator)Mode of pathogenicity for LMX1B was changed to Other - please provide details in the comments
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for LMX1B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)LMX1B was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)LMX1B was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing