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  2. Skeletal Dysplasia_Fetal
  3. LIFR
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Skeletal Dysplasia_Fetal

Gene: LIFR

Green List (high evidence)
LIFR (LIF receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000113594
EnsemblGeneIds (GRCh37): ENSG00000113594
OMIM: 151443, Gene2Phenotype
LIFR is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death.
Created: 8 Nov 2021, 5:56 a.m. | Last Modified: 8 Nov 2021, 5:56 a.m.
Panel Version: 0.240

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559

Created: 8 Nov 2021, 5:56 a.m.
Last Modified: 8 Nov 2021, 5:56 a.m.
Panel version: Imported from Fetal anomalies panel version 0.240

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

Monoallelic variants reported in 4 unrelated patients with CAKUT. Mouse model recapitulates human phenotype. Postulate that LoF variants cause the renal phenotype.
Created: 8 Nov 2021, 1:25 a.m. | Last Modified: 8 Nov 2021, 1:25 a.m.
Panel Version: 0.143

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559

Publications

Created: 8 Nov 2021, 1:25 a.m.
Last Modified: 8 Nov 2021, 1:25 a.m.
Panel version: Imported from Fetal anomalies panel version 0.143

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
OMIM
151443
Clinvar variants
Variants in LIFR
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LIFR was added gene: LIFR was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIFR was set to Unknown