1. Panels
  2. Fetal anomalies
  3. CEP55
Genes in panel
Prev Next

Fetal anomalies

Gene: CEP55

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

4 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Created: 3 Mar 2022, 11:19 a.m.
Last Modified: 3 Mar 2022, 11:19 a.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT; Limb disorders; Severe microcephaly


See previous review for details.
Created: 29 Jan 2021, 12:09 p.m. | Last Modified: 29 Jan 2021, 12:09 p.m.
Panel Version: 1.229

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500

Created: 29 Jan 2021, 12:09 p.m.
Last Modified: 29 Jan 2021, 12:09 p.m.
Panel version: 1.229

Catherine Snow (Genomics England)

Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Created: 19 Aug 2020, 6:16 p.m. | Last Modified: 19 Aug 2020, 6:16 p.m.
Panel Version: 1.82
Created: 19 Aug 2020, 6:16 p.m.
Last Modified: 19 Aug 2020, 6:16 p.m.
Panel version: 1.82

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added gene to panel as Green: MARCH phenotype is appropriate for fetal panel, and 3 unrelated fetal cases reported in literature. Not yet associated with a disorder in Gene2Phenotype.
Created: 21 Apr 2020, 1:46 p.m. | Last Modified: 21 Apr 2020, 1:46 p.m.
Panel Version: 1.6
PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant (p.Ile172Asnfs*17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community.
Created: 21 Apr 2020, 1:44 p.m. | Last Modified: 21 Apr 2020, 1:44 p.m.
Panel Version: 1.4
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 dysplaisa). Segregation analysis supported the gene:disease association, and Haplotype analysis suggested a founder effect.
Created: 21 Apr 2020, 1:44 p.m. | Last Modified: 21 Apr 2020, 1:44 p.m.
Panel Version: 1.4
PMID:28264986: Frosk et al, 2017 report a Dutch-German Mennonite family with 3 affected fetuses homozygous for CEP55 nonsense variant p.Ser425* presenting with MIM:236500 including renal dysplasia.
Created: 21 Apr 2020, 1:44 p.m. | Last Modified: 21 Apr 2020, 1:44 p.m.
Panel Version: 1.4
Added to Fetal anomalies panel on advice from Helen Brittain, Genomics England Clinical Team. MARCH phenotype is appropriate for this panel.
Sources: Other
Created: 21 Apr 2020, 1:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; lethal CEP55-related syndromes

Publications

Created: 21 Apr 2020, 1:44 p.m.
Last Modified: 21 Apr 2020, 1:44 p.m.
Panel version: 1.4

Details

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

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: CEP55.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to CEP55. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Aug 2020, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag for-review tag was added to gene: CEP55.

19 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cep55 has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cep55 has been classified as Red List (Low Evidence).

21 Apr 2020, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CEP55 were set to 28264986; 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 Fetal anomalies. Sources: Other Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP55 were set to 28264986; 28295209 Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; lethal CEP55-related syndromes