Arthrogryposis
Gene: LIFREnsemblGeneIds (GRCh38): ENSG00000113594
EnsemblGeneIds (GRCh37): ENSG00000113594
OMIM: 151443, Gene2Phenotype
LIFR is in 12 panels
1 review
Chirag Patel (Genetic Health Queensland)
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 listCreated: 23 Mar 2023, 12:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM #601559
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM #601559
- OMIM
- 151443
- Clinvar variants
- Variants in LIFR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Autonomic neuropathy
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lifr has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: lifr has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)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