Severe microcephalyGene: CEP57
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are 7 reported cases (9 affected individuals) with homozygous/compound heterzygous variants in this gene (4 variants - c.520_521delGA, c.915_925dup11, c241C>T, c.697delA). Microcephaly is reported in 5/9 individuals (4 families - in 1 family with 2 affected sibs only 1 sib had microcephaly). Those with microcephaly are either compound heterozygous or homozygous for c.915_925dup11 (Mexican, Caucasian, Moroccan origin). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 5 May 2021, 1:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mosaic variegated aneuploidy syndrome 2, OMIM:614114
Gene: cep57 has been classified as Amber List (Moderate Evidence).
gene: CEP57 was added gene: CEP57 was added to Severe microcephaly. Sources: Literature Q2_21_rating tags were added to gene: CEP57. Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP57 were set to 24259107; 30010053; 21552266 Phenotypes for gene: CEP57 were set to Mosaic variegated aneuploidy syndrome 2, OMIM:614114 Review for gene: CEP57 was set to GREEN