LIFR

Green LIFR in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Expert list
• Radboud University Medical Center, Nijmegen
• UKGTN

Phenotypes

• Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM:601559

Green LIFR in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.176

Component of the following Super Panels:

Sources

• Expert Review Green
• Literature

Phenotypes

• CAKUT

Green LIFR in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE Additional Gene List
• Expert Review Green

Phenotypes

• Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM:601559

Tags

• to_be_confirmed_NHSE

No list LIFR in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green LIFR in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• Stuve-Wiedeman syndrome, OMIM:601559

Green LIFR in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559