1. Genes and Genomic Entities
  2. RPGRIP1L

RPGRIP1L

RPGRIP1 like
OMIM: 610937, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels
Red RPGRIP1L in Familial Neural Tube Defects


Version 1.11

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 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red RPGRIP1L in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review Not set
Sources
  • Emory Genetics Laboratory
Red RPGRIP1L in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
No list RPGRIP1L in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

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


    Level 2: Gastrohepatology
    Version 3.19
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 1.31

    		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


    Level 2: Gastrohepatology
    Version 1.32
    Latest signed off version: v1.26 (22 Mar 2023)

    		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 2: Renal
    Version 8.5
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  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 1.124

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • 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 1.51

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Literature
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • COACH syndrome, 216360
    Red RPGRIP1L in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Green RPGRIP1L in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • 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 1.181

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    Green RPGRIP1L in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		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


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		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 1.180

    		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


    Level 2: Ophthalmology
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    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 2: Neurology
    Version 6.13
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  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, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		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