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| Arthrogryposis v0.383 | LIFR |
Chirag Patel gene: LIFR was added gene: LIFR was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIFR were set to PMID: 9674905, 9674906, 14740318, 24988918, 35663789 Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM #601559 Review for gene: LIFR was set to GREEN Added comment: Patients reported as having either neonatal SJS or STWS presented a combination of a severe, prenatal-onset neuromuscular disorder with congenital joint contractures, respiratory and feeding difficulties, tendency to hyperthermia, and frequent death in infancy and a distinct campomelic-metaphyseal skeletal dysplasia. Multiple families with biallelic variants in LIFR gene reported. Sources: Expert list |
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| Arthrogryposis v0.351 | MET | Zornitza Stark Marked gene: MET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.351 | MET | Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.351 | MET | Zornitza Stark Classified gene: MET as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.351 | MET | Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.351 | MET | Zornitza Stark Classified gene: MET as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.351 | MET | Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.350 | MET |
Lucy Spencer gene: MET was added gene: MET was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MET were set to 30777867 Phenotypes for gene: MET were set to ?Arthrogryposis, distal, type 11 (MIM#620019), AD Review for gene: MET was set to AMBER Added comment: Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination. Sources: Literature |
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