Arthrogryposis
Gene: LMX1BThe rating of this gene has been updated following NHS Genomic Medicine Service approvalCreated: 3 Mar 2022, 3:49 p.m. | Last Modified: 3 Mar 2022, 3:49 p.m.
Panel Version: 3.150
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
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
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, OtherCreated: 16 Apr 2020, 10:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nail-patella syndrome, 161200
Publications
Tag for-review was removed from gene: LMX1B.
Source Expert Review Green was added to LMX1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: lmx1b has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: LMX1B.
Publications for gene: LMX1B were set to 8403448; 19194568; 31369690; ISBN:9780199557509
Publications for gene: LMX1B were set to 8403448
Phenotypes for gene: LMX1B were changed from Nail-patella syndrome, 161200 to Nail-patella syndrome, 161200; Nail Patella syndrome; NPS
Gene: lmx1b has been classified as Green List (High Evidence).
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