CAKUT

Gene: LIFR

Green List (high evidence)

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

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: Mode of inheritance of MONOALLELIC is correct for the CAKUT phenotype.
Created: 1 Mar 2022, 5:04 p.m. | Last Modified: 1 Mar 2022, 5:04 p.m.
Panel Version: 1.166

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by expert reviewer. Based on the review and the evidence there is enough evidence to support a gene-disease association. Therefore, this gene has been given Green status.
Created: 11 May 2020, 12:07 p.m. | Last Modified: 11 May 2020, 12:07 p.m.
Panel Version: 1.102

chirag patel (Genetic Health Queensland)

Green List (high evidence)

4 unrelated patients with CAKUT, including functional mouse models.

BUT gene also causes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome with biallelic mutations.
Sources: Literature
Created: 16 Jan 2020, 4:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CAKUT

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • CAKUT
OMIM
151443
Clinvar variants
Variants in LIFR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: LIFR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

11 May 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: LIFR were set to PMID: 28334964

16 Jan 2020, Gel status: 0

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

chirag patel (Genetic Health Queensland)

gene: LIFR was added gene: LIFR was added to CAKUT. Sources: Literature Mode of inheritance for gene: LIFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LIFR were set to PMID: 28334964 Phenotypes for gene: LIFR were set to CAKUT Review for gene: LIFR was set to GREEN