Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Limb disorders v2.69 | CEP55 | Eleanor Williams Tag for-review was removed from gene: CEP55. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.67 | CEP55 | Eleanor Williams commented on gene: CEP55 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.66 | CEP55 |
Eleanor Williams Source Expert Review Green was added to CEP55. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.16 | CEP55 | Arina Puzriakova Classified gene: CEP55 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.16 | CEP55 | Arina Puzriakova Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.16 | CEP55 | Arina Puzriakova Gene: cep55 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.15 | CEP55 | Arina Puzriakova Tag for-review tag was added to gene: CEP55. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | CEP55 | Rebecca Foulger Classified gene: CEP55 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | CEP55 | Rebecca Foulger Added comment: Comment on list classification: Rated as Green after agreement with Eleanor Williams- relevant phenotype for panel, and sufficient cases to support association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | CEP55 | Rebecca Foulger Gene: cep55 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | CEP55 | Rebecca Foulger Classified gene: CEP55 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | CEP55 | Rebecca Foulger Added comment: Comment on list classification: Rated as Green after agreement with Eleanor Williams- relevant phenotype for panel, and sufficient cases to support association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | CEP55 | Rebecca Foulger Gene: cep55 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.4 | CEP55 | Rebecca Foulger commented on gene: CEP55: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.4 | CEP55 |
Rebecca Foulger 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 Added comment: 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: Literature |