RPGRIP1L

Red RPGRIP1L in Familial Neural Tube Defects

Version 1.10

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 1.45

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 1.34

Sources

• Emory Genetics Laboratory

Red RPGRIP1L in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

Sources

• Emory Genetics Laboratory

No list RPGRIP1L in Limb disorders

Version 4.19
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 3.4
Latest signed off version: v3.0 (22 Mar 2023)

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 1.29

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

Version 1.31
Latest signed off version: v1.26 (22 Mar 2023)

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 4.24
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 1.119

Component of the following Super Panels:

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 1.47

Sources

• Expert Review Green
• Emory Genetics Laboratory
• UKGTN
• Literature
• Radboud University Medical Center, Nijmegen

Phenotypes

• COACH syndrome, 216360

Red RPGRIP1L in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Green RPGRIP1L in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• 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 1.176

Component of the following Super Panels:

Sources

• Expert Review Red
• UKGTN

Green RPGRIP1L in Unexplained young onset end-stage renal disease

Version 3.41
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

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 3.157
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MECKEL SYNDROME TYPE 5
• COACH SYNDROME
• JOUBERT SYNDROME TYPE 7

Green RPGRIP1L in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

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 - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

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 4.89
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• COACH syndrome
• Joubert syndrome 7
• Meckel syndrome 5
• Eye Disorders

Green RPGRIP1L in Structural eye disease

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

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 1.171

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 3.6
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

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 3.19
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

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 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

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

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

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 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Meckel syndrome 5, 611561
• COACH syndrome, 216360
• Joubert syndrome 7, 611560