RPGRIP1L

RPGRIP1 like
OMIM: 610937, Gene2Phenotype

26 panels

Panel Reviews Mode of inheritance Details
26 panels

Red RPGRIP1L in Familial Neural Tube Defects


Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome

Red RPGRIP1L in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.12

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

Red RPGRIP1L in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.29

review Not set
Sources
  • Emory Genetics Laboratory

Red RPGRIP1L in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.13

review Not set
Sources
  • Emory Genetics Laboratory

No list RPGRIP1L in Limb disorders


Version 2.39
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • COACH syndrome 216360
    • Joubert syndrome 7 611560
    • Meckel syndrome 5 611561
    • Polydactyly
    Tags
    • curated_removed

    No list RPGRIP1L in Cholestasis


    Version 1.81
    Latest signed off version: v1.21 (20 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • NHS GMS
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Meckel syndrome 5 (611561)
    • Joubert syndrome 7 (611560)
    • COACH syndrome (216360)
    • Congenital hepatic fibrosis
    Tags
    • curated_removed

    Green RPGRIP1L in Ductal plate malformation


    Version 1.16

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Joubert syndrome 7 (611560)
    • Meckel syndrome 5 (611561)
    • COACH syndrome (216360)

    Red RPGRIP1L in Polycystic liver disease interim


    Version 1.23
    Latest signed off version: v1.4 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • COACH syndrome (216360)
    • Joubert syndrome 7 (611560)
    • Meckel syndrome 5 (611561)

    Red RPGRIP1L in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.27
    Latest signed off version: v2.26 (8 Apr 2021)

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease

    Green RPGRIP1L in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.92

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert
    Phenotypes
    • COACH syndrome 216360
    • Joubert syndrome 7 611560
    • Meckel syndrome 5 611561

    Green RPGRIP1L in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • COACH syndrome, 216360

    Red RPGRIP1L in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.29

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Green RPGRIP1L in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.85
    Latest signed off version: v2.84 (16 Dec 2021)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • COACH syndrome 216360
    • Meckel syndrome 5 611561
    • Joubert syndrome 7 611560

    Red RPGRIP1L in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.160

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN

    Green RPGRIP1L in Unexplained paediatric onset end-stage renal disease


    Version 1.15
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Meckel syndrome 5 611561
    • Ciliopathy genes associated with cystic kidney disease
    • COACH syndrome 216360
    • Joubert syndrome 7 611560

    Green RPGRIP1L in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MECKEL SYNDROME TYPE 5
    • COACH SYNDROME
    • JOUBERT SYNDROME TYPE 7

    Green RPGRIP1L in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MECKEL SYNDROME TYPE 5 611561
    • JOUBERT SYNDROME TYPE 7 611560
    • COACH SYNDROME 216360

    Green RPGRIP1L in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Joubert syndrome 7, 611560Meckel syndrome 5, 611561COACH syndrome, 216360
    • COACH SYNDROME (COACHS)

    Green RPGRIP1L in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.173
    Latest signed off version: v2.7 (25 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • COACH syndrome
    • Joubert syndrome 7
    • Meckel syndrome 5
    • Eye Disorders

    Green RPGRIP1L in Structural eye disease


    Version 1.52
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • COACH syndrome, 216360

    Green RPGRIP1L in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.139

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Orphanet
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome
    • Meckel-Gruber syndrome
    • Joubert syndrome 7
    • Meckel syndrome 5
    • Meckel syndrome

    Green RPGRIP1L in Ophthalmological ciliopathies


    Version 1.17
    Latest signed off version: v1.3 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Expert Review Green
    • Expert list
    • Other
    Phenotypes
    • Joubert syndrome 7
    • Meckel syndrome 5
    • Joubert syndrome
    • Meckel syndrome
    • Meckel-Gruber syndrome

    Green RPGRIP1L in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.15
    Latest signed off version: v1.5 (4 Mar 2020)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 7
    • Meckel syndrome 5
    • Joubert syndrome
    • Meckel syndrome
    • Meckel-Gruber syndrome

    Green RPGRIP1L in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.41
    Latest signed off version: v1.40 (6 Apr 2021)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Expert Review Green
    • Expert list
    • Other
    Phenotypes
    • Joubert syndrome 7
    • Meckel syndrome 5
    • Joubert syndrome
    • Meckel syndrome
    • Meckel-Gruber syndrome

    Red RPGRIP1L in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Joubert syndrome 7
    • Joubert syndrome
    • Meckel-Gruber syndrome
    • Meckel syndrome 5
    • Meckel syndrome

    Green RPGRIP1L in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Meckel syndrome 5, 611561
    • COACH syndrome, 216360
    • Joubert syndrome 7, 611560