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Arthrogryposis

Gene: LMX1B

Amber List (moderate evidence)

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:40 p.m. | Last Modified: 20 Oct 2020, 3:40 p.m.
Panel Version: 3.15

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

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: lmx1b has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: LMX1B.

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