Renal ciliopathiesGene: CEP55
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.
Created: 21 Apr 2020, 3:04 p.m. | Last Modified: 21 Apr 2020, 3:04 p.m.
Panel Version: 1.15
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).
Created: 21 Apr 2020, 3:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Meckel-like syndrome; autosomal recessive lethal ciliopathy; renal dysplasia
Gene: cep55 has been classified as Amber List (Moderate Evidence).
Publications for gene: CEP55 were set to 28295209
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