Skeletal dysplasia
Gene: CEP290
611134 listed in polydactyly-syndactyly-triphalangism SD gp - other disorders not listed in SD nosology paper: no clear genotype/phenotype correlation (2010). 611134 - AR; greater than 3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 14 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10; Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CEP290; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 11 Jul 2016, 12:58 p.m.
Tier 2Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Bardet-Biedl syndrome 14 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10; Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189; Joubert syndrome 5 610188; Bardet-Biedl syndrome 14 615991; Leber congenital amaurosis 10 for gene: CEP290
Source NHS GMS was added to CEP290. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CEP290 were set to Bardet-Biedl syndrome 14 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10; Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189
Mode of inheritance for CEP290 was changed to BIALLELIC, autosomal or pseudoautosomal
CEP290 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
This gene has been classified as Green List (High Evidence).
CEP290 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
CEP290 was created by sleigh
CEP290 was added to Unexplained skeletal dysplasiapanel. Sources: