Deafness_IsolatedAndComplex
Gene: LMX1BEnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 15 panels
1 review
Manny Jacobs (Victorian Clinical Genetics Services)
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).
PMID 15928687 - reports 11 individuals across four families with sensorineural hearing impairment and NPS.
Sources: LiteratureCreated: 27 Sep 2023, 5:03 a.m.
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Nail-patella syndrome (MIM#161200), MONDO:0008061
- OMIM
- 602575
- Clinvar variants
- Variants in LMX1B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Glaucoma congenital
- Clefting disorders
- Proteinuria
- BabyScreen+ newborn screening
- Genetic Epilepsy
- Craniosynostosis
- Haematuria_Alport
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Cataract
- Spontaneous coronary artery dissection
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmx1b has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020 to Nail-patella syndrome (MIM#161200), MONDO:0008061
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmx1b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Manny Jacobs (Victorian Clinical Genetics Services)gene: LMX1B was added gene: LMX1B was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMX1B were set to PMID: 27450397, 32457516, 15928687 Phenotypes for gene: LMX1B were set to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020 Review for gene: LMX1B was set to GREEN