Renal ciliopathies

Gene: CEP55

Amber List (moderate evidence)

CEP55 (centrosomal protein 55)
EnsemblGeneIds (GRCh38): ENSG00000138180
EnsemblGeneIds (GRCh37): ENSG00000138180
OMIM: 610000, Gene2Phenotype
CEP55 is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

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).
Sources: Literature
Created: 21 Apr 2020, 3:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel-like syndrome; autosomal recessive lethal ciliopathy; renal dysplasia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Meckel-like syndrome
  • autosomal recessive lethal ciliopathy
  • renal dysplasia
OMIM
610000
Clinvar variants
Variants in CEP55
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cep55 has been classified as Amber List (Moderate Evidence).

21 Apr 2020, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CEP55 were set to 28295209

21 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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