Clefting
Gene: LMX1B
LMX1B (LIM homeobox transcription factor 1 beta)
EnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 13 panels
1 review
Rebecca Foulger (Genomics England curator)
Richieri-Costa (1991, PMID 2012138) reported on 4 affected persons in a 3-generation Brazilian family with Nail-patella syndrome - 1 affected individual had cleft lip and palate. The authors remark that this is an unusual finding related to this condition. Since clefting is not common to NPS, recommend a RED rating for this gene.Created: 31 May 2017, 11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nail-patella syndrome, 161200
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Nail-patella syndrome, 161200
- OMIM
- 602575
- Clinvar variants
- Variants in LMX1B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Unexplained kidney failure in young people
- Proteinuric renal disease
- Arthrogryposis
- Skeletal dysplasia
- Clefting
- Structural eye disease
- Limb disorders
- Glaucoma (developmental)
- Intellectual disability
- Fetal anomalies
- DDG2P
- Bilateral congenital or childhood onset cataracts
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)LMX1B was added to Cleftingpanel. Sources: Expert Review Red
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)LMX1B was created by ellenmcdonagh