Bilateral congenital or childhood onset cataracts
Gene: LMX1BEnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 13 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Associated with glaucomaCreated: 14 Jun 2016, 8:27 a.m.
Phenotypes
Nail-patella syndrome
Publications
- Bongers et al (2005) Eur j Hum Genet 13:935-946
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted to red due to expert review.Created: 14 Jun 2016, 12:38 p.m.
Is on the Manchester congenital cataracts gene panel and is a confirmed DD gene for Nail-Patella syndrome (includes a cataract phenotype).Created: 29 Apr 2016, 12:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Confirmed DD gene for Nail-patella syndrome
- OMIM
- 602575
- Clinvar variants
- Variants in LMX1B
- Penetrance
- Complete
- Publications
-
- Bongers et al (2005) Eur j Hum Genet 13:935-946
- 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LMX1B were set to Bongers et al (2005) Eur j Hum Genet 13:935-946
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LMX1B were set to Confirmed DD gene for Nail-patella syndrome
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for LMX1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()LMX1B was added to Cataractspanel. Sources: UKGTN