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Severe microcephaly

Gene: CEP57

Amber List (moderate evidence)

CEP57 (centrosomal protein 57)
EnsemblGeneIds (GRCh38): ENSG00000166037
EnsemblGeneIds (GRCh37): ENSG00000166037
OMIM: 607951, Gene2Phenotype
CEP57 is in 6 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Sources: Literature
Created: 5 May 2021, 1:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mosaic variegated aneuploidy syndrome 2, OMIM:614114

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mosaic variegated aneuploidy syndrome 2, OMIM:614114
Tags
Q2_21_rating
OMIM
607951
Clinvar variants
Variants in CEP57
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cep57 has been classified as Amber List (Moderate Evidence).

5 May 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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