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Arthrogryposis v3.150 | LMX1B | Sarah Leigh Tag for-review was removed from gene: LMX1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.150 | LMX1B | Sarah Leigh commented on gene: LMX1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.149 | LMX1B |
Sarah Leigh Source Expert Review Green was added to LMX1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Arthrogryposis v3.15 | LMX1B | Arina Puzriakova Classified gene: LMX1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.15 | LMX1B | Arina Puzriakova Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.15 | LMX1B | Arina Puzriakova Gene: lmx1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.14 | LMX1B | Arina Puzriakova Tag for-review tag was added to gene: LMX1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.9 | LMX1B | Rebecca Foulger Publications for gene: LMX1B were set to 8403448; 19194568; 31369690; ISBN:9780199557509 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.8 | LMX1B | Rebecca Foulger Publications for gene: LMX1B were set to 8403448 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.7 | LMX1B | Rebecca Foulger Phenotypes for gene: LMX1B were changed from Nail-patella syndrome, 161200 to Nail-patella syndrome, 161200; Nail Patella syndrome; NPS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.6 | LMX1B | Rebecca Foulger Classified gene: LMX1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.6 | LMX1B | Rebecca Foulger Added comment: Comment on list classification: Changed rating to Green with agreement from Zerin Hyder: overlap with Arthrogryposis phenotype and Nail patella syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.6 | LMX1B | Rebecca Foulger Gene: lmx1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.5 | LMX1B | Rebecca Foulger commented on gene: LMX1B: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.5 | LMX1B | Ataf Sabir reviewed gene: LMX1B: Rating: ; Mode of pathogenicity: ; Publications: 19194568, 31369690, ISBN:9780199557509; Phenotypes: Nail Patella syndrome, NPS; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.4 | LMX1B |
Rebecca Foulger 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 Added comment: Added LMX1B to the Arthrogryposis panel as requested by Dr Ataf Sabir. Sources: Expert Review, Other |