CAKUT
Gene: CEP55Comment on list classification: Updated rating from Grey to Green. Gene was added to the panel and rated Green by Zornitza Stark. 3 separate variants from 3 different ethnic groups (2 of the variants are likely Founder variants), plus zebrafish model. Most homozygous nonsense variants are embryonic lethal but PMID:28295209 report viable compound het missense variants.Created: 31 Mar 2020, 4:01 p.m. | Last Modified: 31 Mar 2020, 4:01 p.m.
Panel Version: 1.58
PMID:32100459 (Barrie et al., 2020) describe 7 individuals from 5 families with biallelic CEP55 variants. This is the first reported case of missense variants in CEP55 (Previously only a prenatal lethal phenotype was reported due to homozygous CEP55 nonsense variants). The authors suggest that compound het cases with nonsense and missense CEP55 variants have a different viable phenotype. Homozgyosity for a splice variant in CEP55 is compatible with life. Renal abnormality was reported in Patient 3.Created: 31 Mar 2020, 3:25 p.m. | Last Modified: 31 Mar 2020, 3:25 p.m.
Panel Version: 1.55
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: 31 Mar 2020, 3:25 p.m. | Last Modified: 31 Mar 2020, 3:25 p.m.
Panel Version: 1.55
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: 31 Mar 2020, 1:43 p.m. | Last Modified: 31 Mar 2020, 1:43 p.m.
Panel Version: 1.54
PMID:30622327 (Rawlins et al) 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: 31 Mar 2020, 1:43 p.m. | Last Modified: 31 Mar 2020, 1:43 p.m.
Panel Version: 1.54
Three families and a zebrafish model support gene-disease association.
Sources: Expert listCreated: 16 Jan 2020, 3:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: cep55 has been classified as Green List (High Evidence).
Phenotypes for gene: CEP55 were changed from Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; MARCH syndrome; Meckel-like syndrome; lethal CEP55-related syndromes
Publications for gene: CEP55 were set to 30622327; 28264986
Publications for gene: CEP55 were set to 30622327
Phenotypes for gene: CEP55 were changed from Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500 to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500
gene: CEP55 was added gene: CEP55 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP55 were set to 30622327 Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500 Review for gene: CEP55 was set to GREEN gene: CEP55 was marked as current diagnostic