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| CAKUT v1.166 | LIFR | Eleanor Williams Added comment: Comment on mode of inheritance: Mode of inheritance of MONOALLELIC is correct for the CAKUT phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.166 | LIFR | Eleanor Williams Mode of inheritance for gene: LIFR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.102 | LIFR | Ivone Leong Classified gene: LIFR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.102 | LIFR | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.102 | LIFR | Ivone Leong Gene: lifr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.98 | LIFR | Ivone Leong Publications for gene: LIFR were set to PMID: 28334964 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | LIFR |
chirag patel 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 Added comment: 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 |
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