GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CEP290

CEP290 (centrosomal protein 290)
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 23 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 6 Mar 2019, 11:52 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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Meckel syndrome 4 611134
Senior-Loken syndrome 6 610189
Joubert syndrome 5 610188
Bardet-Biedl syndrome 14 615991
Leber congenital amaurosis 10

OMIM

610142

Clinvar variants

Variants in CEP290

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: CEP290 was added gene: CEP290 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189; Joubert syndrome 5 610188; Bardet-Biedl syndrome 14 615991; Leber congenital amaurosis 10

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: CEP290