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| Unexplained young onset end-stage renal disease v3.6 | RET | Achchuthan Shanmugasundram changed review comment from: Comment on MOI: Renal agenesis (MIM #191830) is caused by biallelic variants in ITGA8 rather than by biallelic RET variants as suggested in the reviews below. OMIM clearly associates renal agenesis with ITGA8. Biallelic variants in RET has only been associated with renal agenesis in Gene2Phenotype with 'limited' rating, which requires clinical review/. This association was based on OMIM entry and do not have any associated publications. In addition, all other renal related conditions are monoallelic. Hence the MOI should be changed to monoallelic.; to: Comment on MOI: Renal agenesis (MIM #191830) is caused by biallelic variants in ITGA8 rather than by biallelic RET variants as suggested in the reviews below. OMIM clearly associates renal agenesis with ITGA8. Biallelic variants in RET has only been associated with renal agenesis in Gene2Phenotype with 'limited' rating, which requires clinical review. This association was based on OMIM entry and do not have any associated publications. In addition, all other renal related conditions are monoallelic. Hence the MOI should be changed to monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.2 | ITGA8 | Eleanor Williams reviewed gene: ITGA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.1 | ITGA8 |
Eleanor Williams gene: ITGA8 was added gene: ITGA8 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, 191830 |
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