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  2. Kidneyome_SuperPanel_KidGen_VCGS
  3. CEP55
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Kidneyome_SuperPanel_KidGen_VCGS

Gene: CEP55

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500
OMIM
610000
Clinvar variants
Variants in CEP55
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Dec 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500 for gene: CEP55

23 Dec 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: CEP55 was added gene: CEP55 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Expert Review Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP55 were set to 30622327; 28295209; 28264986 Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500