Fetal anomalies
Gene: CEP55The 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
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
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
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: OtherCreated: 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
Tag for-review was removed from gene: CEP55.
Source Expert Review Green was added to CEP55. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: CEP55.
Gene: cep55 has been classified as Amber List (Moderate Evidence).
Gene: cep55 has been classified as Green List (High Evidence).
Gene: cep55 has been classified as Red List (Low Evidence).
Publications for gene: CEP55 were set to 28264986; 28295209
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