Arthrogryposis
Gene: LMX1BEnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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. >300 families reported.Created: 4 Nov 2020, 9:51 p.m. | Last Modified: 4 Nov 2020, 9:51 p.m.
Panel Version: 0.242
Elbow and knee contractures are common features.
Sources: Expert listCreated: 11 Jul 2020, 8:19 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nail-patella syndrome, MIM# 161200, MONDO:0008061
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Nail-patella syndrome, MIM# 161200, MONDO:0008061
- OMIM
- 602575
- Clinvar variants
- Variants in LMX1B
- Penetrance
- None
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LMX1B were changed from Nail-patella syndrome, MIM# 161200 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).
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 Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LMX1B was added gene: LMX1B was added to Arthrogryposis. Sources: Expert list 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, MIM# 161200 Review for gene: LMX1B was set to GREEN