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Fetal anomalies v1.836 CEP55 Arina Puzriakova Tag for-review was removed from gene: CEP55.
Fetal anomalies v1.836 CEP55 Arina Puzriakova commented on gene: CEP55
Fetal anomalies v1.835 CEP55 Arina Puzriakova Source Expert Review Green was added to CEP55.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.229 CEP55 Rhiannon Mellis reviewed gene: CEP55: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.82 CEP55 Catherine Snow Tag for-review tag was added to gene: CEP55.
Fetal anomalies v1.82 CEP55 Catherine Snow Classified gene: CEP55 as Amber List (moderate evidence)
Fetal anomalies v1.82 CEP55 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.82 CEP55 Catherine Snow Gene: cep55 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.7 CEP55 Rebecca Foulger Classified gene: CEP55 as Green List (high evidence)
Fetal anomalies v1.7 CEP55 Rebecca Foulger Gene: cep55 has been classified as Green List (High Evidence).
Fetal anomalies v1.6 CEP55 Rebecca Foulger Classified gene: CEP55 as Red List (low evidence)
Fetal anomalies v1.6 CEP55 Rebecca Foulger Added comment: 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.
Fetal anomalies v1.6 CEP55 Rebecca Foulger Gene: cep55 has been classified as Red List (Low Evidence).
Fetal anomalies v1.5 CEP55 Rebecca Foulger Publications for gene: CEP55 were set to 28264986; 28295209
Fetal anomalies v1.4 CEP55 Rebecca Foulger changed review comment from: 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.; to: 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.
Fetal anomalies v1.4 CEP55 Rebecca Foulger commented on gene: CEP55: 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.
Fetal anomalies v1.4 CEP55 Rebecca Foulger commented on gene: CEP55: 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.
Fetal anomalies v1.4 CEP55 Rebecca Foulger commented on gene: CEP55: 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.
Fetal anomalies v1.4 CEP55 Rebecca Foulger 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
Added comment: Added to Fetal anomalies panel on advice from Helen Brittain, Genomics England Clinical Team. MARCH phenotype is appropriate for this panel.
Sources: Other