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Severe microcephaly

Gene: CEP55

Amber List (moderate evidence)

CEP55 (centrosomal protein 55)
EnsemblGeneIds (GRCh38): ENSG00000138180
EnsemblGeneIds (GRCh37): ENSG00000138180
OMIM: 610000, Gene2Phenotype
CEP55 is in 8 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:37 p.m. | Last Modified: 20 Oct 2020, 3:37 p.m.
Panel Version: 2.33

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

PMID:32100459 (Barrie et al., 2020) describe 7 living indivduals (5 families) with biallelic CEP55 variants (compound het, or homozygous splice site variant). Three sisters (Patients 5,6,7) have severe microcephaly (-7.1 SD, -5.5, -5.5). An additional 3 unrelated patients (Patients 1,2,3) have microcephaly scores of -2 SD, -2.7 SD, and Patient 4 has borderline microcephaly. Severe microcephaly (NHS Test Directory) is defined as having an occipitofrontal circumference (OFC) beyond 3 standard deviations below the mean for age. There are 4 unrelated cases which meet this threshold (3 sisters) or are close to this threshold (3 unrelated patients) and therefore on balance have rated as Green awaiting further GLH review.
Created: 21 Apr 2020, 2 p.m. | Last Modified: 21 Apr 2020, 2:16 p.m.
Panel Version: 2.5
Added to Microcephaly panel on advice from Helen Brittain, Genomics England Clinical Team. Phenotype of living individuals described in PMID:32100459 (Barrie et al., 2020) includes microcephaly.
Sources: Literature
Created: 21 Apr 2020, 2 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephaly, speech delays, and bilateral toe syndactyly

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • microcephaly, speech delays, and bilateral toe syndactyly
Tags
for-review
OMIM
610000
Clinvar variants
Variants in CEP55
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cep55 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: CEP55.

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cep55 has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: CEP55 was added gene: CEP55 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP55 were set to 32100459 Phenotypes for gene: CEP55 were set to microcephaly, speech delays, and bilateral toe syndactyly Review for gene: CEP55 was set to GREEN