CEP41

centrosomal protein 41
OMIM: 610523, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Red CEP41 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.5

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Red CEP41 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory

No list CEP41 in Limb disorders


Version 1.58

review Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly

No list CEP41 in Ductal plate malformation


Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Joubert syndrome 15 (614464)

Red CEP41 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 2.0

review Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease

Red CEP41 in Autism


Version 0.15

review Not set
Sources
  • Expert Review Red
  • SFARI

Red CEP41 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.73

review Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease

Red CEP41 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.34

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Joubert syndrome

Red CEP41 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.19

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies

Red CEP41 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.202

review Not set
Sources
  • Emory Genetics Laboratory

Red CEP41 in Renal and urinary tract disorders


Version 1.18

review Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease

Red CEP41 in Unexplained paediatric onset end-stage renal disease


Version 0.38

review Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease

Green CEP41 in Fetal anomalies


Version 0.344

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 15

Green CEP41 in DDG2P


Version 1.81

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 15 614464

Green CEP41 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1046

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 15, 614464
  • JOUBERT SYNDROME 15

Red CEP41 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.161

review Not set
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Eye Disorders

Red CEP41 in Structural eye disease


Version 0.88

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 15, 614464

Green CEP41 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.119

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 15

Green CEP41 in Ophthalmological ciliopathies


Version 0.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 15

Green CEP41 in Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 0.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 15

Green CEP41 in Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 15