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Renal ciliopathies v1.15 CEP55 Rebecca Foulger Classified gene: CEP55 as Amber List (moderate evidence)
Renal ciliopathies v1.15 CEP55 Rebecca Foulger Added comment: Comment on list classification: Rated as Amber on advice from Helen Brittain: all of the cases are prenatal / peri-natal lethal so better suited to Fetal panel.
Renal ciliopathies v1.15 CEP55 Rebecca Foulger Gene: cep55 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v1.14 CEP55 Rebecca Foulger Publications for gene: CEP55 were set to 28295209
Renal ciliopathies v1.13 CEP55 Rebecca Foulger gene: CEP55 was added
gene: CEP55 was added to Renal ciliopathies. Sources: Literature
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 28295209
Phenotypes for gene: CEP55 were set to Meckel-like syndrome; autosomal recessive lethal ciliopathy; renal dysplasia
Review for gene: CEP55 was set to AMBER
Added comment: Added CEP55 to renal ciliopathy panel as Amber after agreement from Helen Brittain, Genomics England Clinical Team. PMID:28295209 (Bondeson et al) report a Swedish couple with 2 affected male fetuses homozygous for CEP55 p.Arg86*. Although the phenotype differed between fetuses, both exhibited kidney phenotypes (including renal dysplasia). Segregation analysis supported the gene:disease association, and haplotype analysis suggested a founder effect. The authors concluded the phenotype was consistent with an AR lethal ciliopathy. The lethal phenotype is similar to that reported in individuals in PMID:30622327 (Rawlins et al., 2019) and PMID:28264986 (Frosk et al, 2017).
Sources: Literature