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

Gene: LIFR

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

• 38025229

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

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

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

• PMID: 28334964