Spontaneous coronary artery dissection
Gene: LMX1BEnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Vascular involvement is not typically reported in this syndrome, this case report could be a coincidence, hence Red rating pending further reports.Created: 13 Aug 2024, 1:59 a.m. | Last Modified: 13 Aug 2024, 1:59 a.m.
Panel Version: 0.50
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nail-patella syndrome MIM#161200
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 29650765; 1x individual with SCAD and an NMD fs
this gene is constraint for LoF in gnomad v4 with only 2 hets for an NMD variant.
amber so as to not miss a diagnosis
Sources: LiteratureCreated: 28 Jun 2024, 12:42 a.m. | Last Modified: 8 Aug 2024, 6:55 a.m.
Panel Version: 0.48
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nail-patella syndrome MIM#161200
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Nail-patella syndrome MIM#161200
- 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 Red List (Low Evidence).
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: LMX1B were set to 37979122; 29650765
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: lmx1b has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: lmx1b has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: LMX1B was added gene: LMX1B was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMX1B were set to 37979122; 29650765 Phenotypes for gene: LMX1B were set to Nail-patella syndrome MIM#161200 Review for gene: LMX1B was set to RED gene: LMX1B was marked as current diagnostic