1. Panels
  2. Fetal anomalies
  3. LIFR
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

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: 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: 0.143

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559
  • CAKUT
OMIM
151443
Clinvar variants
Variants in LIFR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lifr has been classified as Green List (High Evidence).

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LIFR were changed from Schwartz-Jampel type 2 syndrome; Stuve-Wiedemann syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; CAKUT

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LIFR were set to

8 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LIFR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Oct 2021, Gel status: 3

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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIFR were set to Schwartz-Jampel type 2 syndrome; Stuve-Wiedemann syndrome