CAKUT
Gene: LIFRComment 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
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
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: LiteratureCreated: 16 Jan 2020, 4:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAKUT
Publications
Mode of inheritance for gene: LIFR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: lifr has been classified as Green List (High Evidence).
Publications for gene: LIFR were set to PMID: 28334964
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