Severe microcephalyGene: CEP63
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
This gene has been tagged for review by the GMS specialist group.
Created: 5 May 2021, 2:09 p.m. | Last Modified: 5 May 2021, 2:09 p.m.
Panel Version: 2.128
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Tag Q2_21_expert_review was removed from gene: CEP63.
Phenotypes for gene: CEP63 were changed from MCPH; primary microcephaly; ?Seckel syndrome 6, 614728; Microcephaly to MCPH; primary microcephaly; ?Seckel syndrome 6, OMIM:614728; Microcephaly
Source Expert Review Red was added to CEP63. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q2_21_expert_review tag was added to gene: CEP63.
Source NHS GMS was added to CEP63.
2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Publications for CEP63 were set to 21983783; 26158450
This gene has been classified as Green List (High Evidence).
CEP63 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene CEP63 was set to BIALLELIC, autosomal or pseudoautosomal
CEP63 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
CEP63 was created by rfoulger