Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: LIFR

Green List (high evidence)

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

3 reviews

Renee Santoreneos (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID2 38025229. Werfel et al 2023.
- cohort of 100 individuals with u/l or b/l CAKUT diagnosed within the first 1000 days of life with CKD stage 1-5D/T underwent WES, 58 known CAKUT genes analysed
- 27 LP/P variants identified in 25/100 patients
- Of these, 2 unrelated individuals with LIFR null variants, 1 individual had the same p.Val425Ilefs*2 (also denovo) originally reported in the index case from Kosfeld et al (28334964), and 1 had null variant with undetermined inheritance
- 2% diagnostic yield of LIFR variants in CAKUT
Created: 10 Jan 2025, 11:39 p.m. | Last Modified: 10 Jan 2025, 11:39 p.m.
Panel Version: 0.117

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CAKUT

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Mouse model recapitulates human phenotype. Postulate that LoF variants cause the renal phenotype.
Created: 28 Nov 2019, 3:09 a.m. | Last Modified: 28 Nov 2019, 3:09 a.m.
Panel Version: 0.5

Chirag Patel (Genetic Health Queensland)

I don't know

4 unrelated patients with CAKUT, including functional mouse models.

BUT gene also causes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome with biallelic mutations.
Created: 27 Nov 2019, 11:31 p.m. | Last Modified: 16 Jan 2020, 4:14 a.m.
Panel Version: 0.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT MONDO:0019719, LIFR-related
OMIM
151443
Clinvar variants
Variants in LIFR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LIFR were changed from CAKUT to CAKUT MONDO:0019719, LIFR-related

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LIFR were set to 28334964

16 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LIFR were changed from CAKUT to CAKUT

16 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LIFR were changed from to CAKUT

28 Nov 2019, 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).

28 Nov 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LIFR were set to

28 Nov 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

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 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIFR was set to Unknown