CEP290

Panel	Reviews	Mode of inheritance	Details
Filter panels 21 panels
Green CEP290 in Bardet Biedl syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	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 2.0	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 2.0	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 2.0	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 2.0	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 1.0	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 2.0	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 1.0	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 2.0	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 1.0	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 Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Joubert syndrome 5, MIM# 610188
Green CEP290 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	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 1.0	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 1.0	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 1.0	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 2.0	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 2.0	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 2.0	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 3.0	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 2.0	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 3.0	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

CEP290

21 panels

Green CEP290 in Bardet Biedl syndrome

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Phenotypes

Red CEP290 in Cerebral Palsy

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Phenotypes

Green CEP290 in Ciliopathies

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Phenotypes

Green CEP290 in Joubert syndrome and other neurological ciliopathies

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Phenotypes

Green CEP290 in Mendeliome

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Phenotypes

Green CEP290 in Polydactyly

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Green CEP290 in Renal Ciliopathies and Nephronophthisis

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Phenotypes

Red CEP290 in Regression

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Phenotypes

Green CEP290 in Intellectual disability syndromic and non-syndromic

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Phenotypes

Green CEP290 in Skeletal dysplasia

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Phenotypes

Green CEP290 in Ataxia

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Phenotypes

Green CEP290 in Retinitis pigmentosa

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Phenotypes

Green CEP290 in Syndromic Retinopathy

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Phenotypes

Green CEP290 in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Green CEP290 in Additional findings_Paediatric

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Phenotypes

Green CEP290 in Congenital nystagmus

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Phenotypes

Green CEP290 in Fetal anomalies

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Phenotypes

Green CEP290 in Severe early-onset obesity

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Phenotypes

Green CEP290 in Prepair 1000+

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Phenotypes

Red CEP290 in Genomic newborn screening: BabyScreen+

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Phenotypes

Green CEP290 in Prepair 500+

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Phenotypes