Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: LMX1B

Green List (high evidence)

LMX1B (LIM homeobox transcription factor 1 beta)
EnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 17 panels

2 reviews

Ataf Sabir (Birmingham Women's Hospital)

LMX1B causes Nail Patella syndrome (NPS). NPS is well known to present with multiple contractures. Arthrogryposis is defined as multiple congenital joint contractures (usually non-progressive) involving more than one joint, thus bilateral talipes in the absence of other joint involvement does not constitute arthrogryposis (ISBN:9780199557509). In NPS, it is well known that multiple congenital joint contractures do occur, often in the elbows and knees, though they are not labelled as arthrogryposis but exhibit a similar phenotype (PMIDs:19194568;31369690).
Created: 16 Apr 2020, 10:22 a.m. | Last Modified: 16 Apr 2020, 10:22 a.m.
Panel Version: 3.5

Phenotypes
Nail Patella syndrome; NPS

Publications

Rebecca Foulger (Genomics England curator)

Comment on list classification: Changed rating to Green with agreement from Zerin Hyder: overlap with Arthrogryposis phenotype and Nail patella syndrome.
Created: 16 Apr 2020, 10:51 a.m. | Last Modified: 16 Apr 2020, 10:51 a.m.
Panel Version: 3.6
Dr Ataf Sabir notes (email, April 16 2020) that they had a 100K patient who presented with what looked like arthrogryposis, who had the Arthrogryposis panel with nil result, and on further investigation the patient had Nail Patella syndrome.
Created: 16 Apr 2020, 10:25 a.m. | Last Modified: 16 Apr 2020, 10:25 a.m.
Panel Version: 3.5
Added LMX1B to the Arthrogryposis panel as requested by Dr Ataf Sabir.
Sources: Expert Review, Other
Created: 16 Apr 2020, 10:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Nail-patella syndrome, 161200

Publications

History Filter Activity

16 Apr 2020, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: LMX1B were set to 8403448; 19194568; 31369690; ISBN:9780199557509

16 Apr 2020, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: LMX1B were set to 8403448

16 Apr 2020, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: LMX1B were changed from Nail-patella syndrome, 161200 to Nail-patella syndrome, 161200; Nail Patella syndrome; NPS

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: lmx1b has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: LMX1B was added gene: LMX1B was added to Arthrogryposis. Sources: Expert Review,Other Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMX1B were set to 8403448 Phenotypes for gene: LMX1B were set to Nail-patella syndrome, 161200