Skeletal dysplasia
Gene: LIFREnsemblGeneIds (GRCh38): ENSG00000113594
EnsemblGeneIds (GRCh37): ENSG00000113594
OMIM: 151443, Gene2Phenotype
LIFR is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Bi-allelic variants: At least 28 unique variants (nonsense, frameshift, splicing, missense, gross deletions) have been reported in individuals with Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 22 of which are predicted to cause LOF, suggesting homozygous LOF is the mechanism of disease for this gene. Variants in this gene have been reported in at least 22 probands in four publications.
Mono-allelic variants: associated with CAKUT in 4 individuals, mouse model recapitulates phenotype.Created: 20 Sep 2020, 10:51 p.m. | Last Modified: 20 Sep 2020, 10:51 p.m.
Panel Version: 0.4525
Comment when marking as ready: Mouse model recapitulates human phenotype. Postulate that LoF variants cause the renal phenotype.Created: 28 Nov 2019, 3:09 a.m. | Last Modified: 28 Nov 2019, 3:09 a.m.
Panel Version: 0.5
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; CAKUT
Publications
Chirag Patel (Genetic Health Queensland)
4 unrelated patients with CAKUT, including functional mouse models.
BUT gene also causes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome with biallelic mutations.Created: 27 Nov 2019, 11:31 p.m. | Last Modified: 27 Nov 2019, 11:31 p.m.
Panel Version: 0.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
- PMID: 28334964
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559
- OMIM
- 151443
- Clinvar variants
- Variants in LIFR
- Penetrance
- None
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LIFR was added gene: LIFR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559