PanelApp
  1. Genes and Genomic Entities
  2. CEP290

CEP290

centrosomal protein 290
OMIM: 610142, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green CEP290 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 14, MIM# 615991

    Red CEP290 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.400

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Joubert syndrome 5, MIM#610188

    Green CEP290 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.94

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 14, MIM# 615991
    • Joubert syndrome 5 610188
    • Leber congenital amaurosis 10, MIM# 611755
    • Meckel syndrome 4, MIM# 611134
    • Senior-Loken syndrome 6, MIM# 610189

    Green CEP290 in Joubert syndrome and other neurological ciliopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.31

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 5, MIM# 610188
    • Meckel syndrome 4, MIM# 611134

    Green CEP290 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 14, MIM# 615991
    • Joubert syndrome 5 610188
    • Leber congenital amaurosis 10, MIM# 611755
    • Meckel syndrome 4, MIM# 611134
    • Senior-Loken syndrome 6, MIM# 610189

    Green CEP290 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.296

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green CEP290 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.45

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    • Victorian Clinical Genetics Services
    Phenotypes
    • Senior-Loken syndrome 6, MIM# 610189

    Red CEP290 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 14, MIM# 615991
    • Joubert syndrome 5 610188
    • Leber congenital amaurosis 10, MIM# 611755
    • Meckel syndrome 4, MIM# 611134
    • Senior-Loken syndrome 6, MIM# 610189

    Green CEP290 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Joubert syndrome 5, MIM# 610188
    • Meckel syndrome 4, MIM# 611134
    • Bardet-Biedl syndrome 14, MIM# 615991

    Green CEP290 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 14 615991
    • Leber congenital amaurosis 10
    • Joubert syndrome 5 610188
    • Meckel syndrome 4 611134
    • Senior-Loken syndrome 6 610189

    Green CEP290 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.60

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 5

    Green CEP290 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.182

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Senior-Loken syndrome 6, 610189
    • Meckel syndrome 4, 611134
    • Leber congenital amaurosis 10, 611755
    • Joubert syndrome 5, 610188
    • Bardet-Biedl syndrome 14, 209900

    Green CEP290 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • RetNet
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Meckel syndrome 4, 611134
    • Senior-Loken syndrome 6, 610189
    • Bardet-Biedl syndrome 14, 209900
    • Leber congenital amaurosis 10, 611755
    • Joubert syndrome 5, 610188

    Green CEP290 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Joubert syndrome 5, 610188 (3)

    Green CEP290 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Joubert syndrome

    Green CEP290 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 10, MIM# 611755

    Green CEP290 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 14, MIM# 615991
    • Joubert syndrome 5, MIM# 610188
    • Meckel syndrome 4, MIM# 611134

    Green CEP290 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.19

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 14, MIM# 615991

    Green CEP290 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Joubert syndrome 5, 610188 (3)

    Red CEP290 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Bardet-Biedl syndrome 14, MIM# 615991
    • Joubert syndrome 5 610188
    • Leber congenital amaurosis 10, MIM# 611755
    • Meckel syndrome 4, MIM# 611134
    • Senior-Loken syndrome 6, MIM# 610189

    Green CEP290 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • CEP290-related ciliopathy MONDO:0100451
    • Bardet-Biedl syndrome 14, MIM# 615991
    • Joubert syndrome 5 610188
    • Leber congenital amaurosis 10, MIM# 611755
    • Meckel syndrome 4, MIM# 611134
    • Senior-Loken syndrome 6, MIM# 610189