Primary ciliary disorders

Gene: CEP55

Red List (low evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

c.256C>T (p.Arg86*) found in two sibling fetuses with autosomal recessive lethal fetal ciliopathy. Haplotype analysis revealed relatedess of parents (PMID 28295209)
Created: 4 May 2017, 1:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel-like syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Meckel-like syndrome
OMIM
610000
Clinvar variants
Variants in CEP55
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CEP55 was created by sleigh

4 May 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

CEP55 was added to Primary ciliary disorderspanel. Sources: Literature