Proteinuric renal disease
Gene: LMX1B
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
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.
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
Variants in this GENE are reported as part of current diagnostic practice
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
Phenotypes for gene: LMX1B were changed from to Nail-patella syndrome #161200; FSGS; proteinuria; kidney failure; isolated glomerulopathy
Publications for gene: LMX1B were set to
Source NHS GMS was added to LMX1B. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for LMX1B was changed to Other - please provide details in the comments
Mode of inheritance for LMX1B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
LMX1B was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
LMX1B was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing