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Arthrogryposis
Gene: LMX1B

LMX1B (LIM homeobox transcription factor 1 beta)
EnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 13 panels

4 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval
Created: 3 Mar 2022, 3:49 p.m. | Last Modified: 3 Mar 2022, 3:49 p.m.

Panel Version: 3.150

Created: 3 Mar 2022, 3:49 p.m.
Last Modified: 3 Mar 2022, 3:49 p.m.
Panel version: 3.150

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

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

Created: 16 Apr 2020, 10:22 a.m.
Last Modified: 16 Apr 2020, 10:22 a.m.
Panel version: 3.5

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

8403448

Created: 16 Apr 2020, 10:16 a.m.

Panel version: 3.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Other
Expert Review

Phenotypes

Nail-patella syndrome, 161200
Nail Patella syndrome
NPS

OMIM

602575

Clinvar variants

Variants in LMX1B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: LMX1B.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to LMX1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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