Limb disorders
Gene: CEP55The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 5 Mar 2022, 8:17 p.m. | Last Modified: 5 Mar 2022, 8:17 p.m.
Panel Version: 2.67
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, 3:36 p.m. | Last Modified: 20 Oct 2020, 3:36 p.m.
Panel Version: 2.16
Comment on list classification: Rated as Green after agreement with Eleanor Williams- relevant phenotype for panel, and sufficient cases to support association.Created: 21 Apr 2020, 3:07 p.m. | Last Modified: 21 Apr 2020, 3:07 p.m.
Panel Version: 2.5
Comment on list classification: Rated as Green after agreement with Eleanor Williams- relevant phenotype for panel, and sufficient cases to support association.Created: 21 Apr 2020, 3:07 p.m. | Last Modified: 21 Apr 2020, 3:07 p.m.
Panel Version: 2.5
PMID:32100459 (Barrie et al., 2020) describe 7 living indivduals (5 families) with biallelic CEP55 variants (compound het and homozygous splice site variant). The phenotype includes microcephaly, developmental delay and syndactyly. Patients 1,2,3,4 had bilateral toe syndactyly and 5th finger clinodactyly, Patient 5 had unilateral club foot. The three siblings (patients 5,6,7) all had small hands and feet.Created: 21 Apr 2020, 2:50 p.m. | Last Modified: 21 Apr 2020, 2:50 p.m.
Panel Version: 2.4
Added to Limb disorders panel on advice from Helen Brittain, Genomics England Clinical Team. Phenotype of living individuals in PMID:32100459 (Barrie et al., 2020) includes syndactyly.
Sources: LiteratureCreated: 21 Apr 2020, 2:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
microcephaly, developmental delay and bilateral toe syndactyly
Publications
Tag for-review was removed from gene: CEP55.
Source Expert Review Green was added to CEP55. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: cep55 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: CEP55.
Gene: cep55 has been classified as Green List (High Evidence).
Gene: cep55 has been classified as Green List (High Evidence).
gene: CEP55 was added gene: CEP55 was added to Limb disorders. 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, developmental delay and bilateral toe syndactyly