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BabyScreen+ newborn screening

Gene: LIFR

Red List (low 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)

Red List (low evidence)

No specific treatment.
Created: 26 Sep 2022, 10:34 a.m. | Last Modified: 26 Sep 2022, 10:34 a.m.
Panel Version: 0.226

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 26 Sep 2022, 10:34 a.m.
Last Modified: 26 Sep 2022, 10:34 a.m.
Panel version: 0.228

David Amor (Murdoch Children's Research Institute)

Green List (high evidence)

Gene-disease association: Strong. Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death

Onset: Birth, typically lethal in neonatal period


Treatment: None specific. Early diagnosis may assist management
Created: 26 Sep 2022, 6:24 a.m. | Last Modified: 26 Sep 2022, 6:24 a.m.
Panel Version: 0.199

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stuve-Wiedemann syndrome

Created: 26 Sep 2022, 6:24 a.m.
Last Modified: 26 Sep 2022, 6:24 a.m.
Panel version: 0.199

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559
OMIM
151443
Clinvar variants
Variants in LIFR
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lifr has been classified as Red List (Low Evidence).

26 Sep 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lifr has been classified as Red List (Low Evidence).

18 Sep 2022, 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 gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome