INVS

Red INVS in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

Sources

• NHS GMS
• Emory Genetics Laboratory

Phenotypes

• Eye Disorders

Green INVS in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

Sources

• Expert Review Green
• Victorian Clinical Genetics Services
• Emory Genetics Laboratory

Phenotypes

• Nephronophthisis 2, infantile 602088

Red INVS in Thoracic dystrophies

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

Sources

• Emory Genetics Laboratory

No list INVS in Ductal plate malformation

Version 1.29

Sources

• Expert Review Removed
• Expert list
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Nephronophthisis 2, infantile

Tags

• curated_removed

Green INVS in Tubulointerstitial kidney disease

Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Nephronopthisis 2, infantile MIM 602088

Green INVS 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 Green
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Green INVS in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118

Component of the following Super Panels:

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen
• UKGTN
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Expert

Phenotypes

• Nephronophthisis 2, infantile 602088

Red INVS in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Red INVS in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Emory Genetics Laboratory

Green INVS in Unexplained young onset end-stage renal disease

Version 3.40
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Nephronophthisis 2, infantile 602088
• Ciliopathy genes associated with cystic kidney disease

Green INVS in Fetal anomalies

Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE Additional Gene List
• Expert Review Green

Phenotypes

• Nephronophthisis 2 602088

Red INVS 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 Red

Phenotypes

• Eye Disorders
• Nephronophthisis 2, infantile

Red INVS in Structural eye disease

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

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Nephronophthisis 2, infantile, 602088
• Eye Disorders

Green INVS in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.170

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• Orphanet
• UKGTN
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

• Nephronophthisis 2, infantile, 602088
• Nephronophthisis
• Senior-Loken syndrome

Green INVS 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

• Illumina TruGenome Clinical Sequencing Services
• Expert Review Green
• Orphanet
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list
• Emory Genetics Laboratory

Phenotypes

• Senior-Loken syndrome
• Nephronophthisis 2, infantile, 602088
• Nephronophthisis

Red INVS in Childhood onset dystonia, chorea or related movement disorder

Version 3.75
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green INVS in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Nephronophthisis 2, infantile, 602088