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  3. LIFR
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Fetal anomalies

Gene: LIFR

Green List (high evidence)
LIFR (LIF receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000113594
EnsemblGeneIds (GRCh37): ENSG00000113594
OMIM: 151443, Gene2Phenotype
LIFR is in 5 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal.

The GMS reviewers noted as follows:
Biallelic LoF variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. Monoallelic variants are reported in association with CAKUT - de novo frameshift in one case with bilateral CAKUT and two rare missense variants in 3 further cases (PMID:28334964). Gene is not depleted for LoF variants and >50 variants that are classified as (likely) pathogenic in ClinVar are present in the heterozygous state in gnomAD. If there is a genuine association between monoallelic LoF variants and CAKUT, penetrance must be low. MOI should remain as biallelic only.
Created: 11 Mar 2026, 7:08 p.m. | Last Modified: 11 Mar 2026, 7:24 p.m.
Panel Version: 6.157
Created: 11 Mar 2026, 7:08 p.m.
Last Modified: 11 Mar 2026, 7:24 p.m.
Panel version: 6.157

Arina Puzriakova (Genomics England Curator)

The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before changing the mode of inheritance.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.10
Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.10

Eleanor Williams (Genomics England Curator)

Heterozygous variants in LIFR are associated with a CAKUT phenotype, while homozygous variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. At the moment the mode of inheritance for this gene on the Fetal anomalies panel is biallelic only.

GMS fetal group input is needed to decide whether the mode of inheritance for this gene should also include monoallelic cases as the renal phenotype might be detected antenatally e.g. hydronephrosis. The paper describing the CAKUT cases is PMID: 28334964 (Kosfeld et al 2017).
Created: 13 Apr 2022, 12:54 p.m. | Last Modified: 13 Apr 2022, 2:33 p.m.
Panel Version: 1.854
Created: 13 Apr 2022, 12:54 p.m.
Last Modified: 13 Apr 2022, 2:33 p.m.
Panel version: 1.854

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
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

History Filter Activity

11 Mar 2026, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag to_be_confirmed_NHSE was removed from gene: LIFR.

27 Dec 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_22_MOI was removed from gene: LIFR. Tag Q2_22_expert_review was removed from gene: LIFR.

30 Jan 2023, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag to_be_confirmed_NHSE tag was added to gene: LIFR.

13 Apr 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

13 Apr 2022, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: LIFR were set to

13 Apr 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_22_MOI tag was added to gene: LIFR.

13 Apr 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_22_expert_review tag was added to gene: LIFR.

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Schwartz-Jampel type 2 syndrome for gene: LIFR

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: LIFR was added gene: LIFR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome