Haematuria_Alport
Gene: LMX1B
LMX1B (LIM homeobox transcription factor 1 beta)
EnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 15 panels
1 review
Chirag Patel (Genetic Health Queensland)
in proteinuria panelCreated: 3 Jan 2020, 5:08 a.m. | Last Modified: 3 Jan 2020, 5:08 a.m.
Panel Version: 0.18
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- 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
14 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmx1b has been classified as Red List (Low Evidence).
3 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: lmx1b has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LMX1B was added gene: LMX1B was added to Alport syndrome extended_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LMX1B was set to Unknown