AHI1

Red AHI1 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 AHI1 in Thoracic dystrophies

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

Sources

• Emory Genetics Laboratory

No list AHI1 in Limb disorders

Version 4.23
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Removed
• Victorian Clinical Genetics Services

Phenotypes

• Polydactyly
• Joubert syndrome 3 608629

Tags

• curated_removed

No list AHI1 in Ductal plate malformation

Version 1.29

Sources

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

Phenotypes

• Joubert syndrome 3 (608629)

Tags

• curated_removed

Red AHI1 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

Red AHI1 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
• Expert Review Red

Phenotypes

• Ciliopathy genes associated with cystic kidney disease
• Joubert syndrome-3 608629

Red AHI1 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47

Sources

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

Phenotypes

• Joubert syndrome-3

Red AHI1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Red AHI1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Emory Genetics Laboratory

Green AHI1 in Unexplained young onset end-stage renal disease

Version 3.42
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Ciliopathy genes associated with cystic kidney disease
• Joubert syndrome-3 608629

Green AHI1 in Fetal anomalies

Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• JOUBERT SYNDROME

Green AHI1 in DDG2P

Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• JOUBERT SYNDROME 614615

Green AHI1 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Joubert syndrome 3 608629

Green AHI1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Eye Disorders
• Joubert syndrome 3, 608629

Red AHI1 in Structural eye disease

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

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Joubert syndrome 3, 608629

Green AHI1 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.172

Sources

• Eligibility statement prior genetic testing
• Other
• Expert Review Green
• Expert list

Phenotypes

• Joubert syndrome
• Joubert syndrome-3.
• Joubert syndrome 3

Green AHI1 in Ophthalmological ciliopathies

Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Eligibility statement prior genetic testing
• Expert list
• Expert Review Green
• Other

Phenotypes

• Joubert syndrome 3
• Joubert syndrome
• Joubert syndrome-3.

Green AHI1 in Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.20
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Joubert syndrome 3
• Joubert syndrome
• Joubert syndrome-3.

Green AHI1 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

• Eligibility statement prior genetic testing
• Expert list
• Expert Review Green
• Other

Phenotypes

• Joubert syndrome 3
• Joubert syndrome
• Joubert syndrome-3.

Red AHI1 in Childhood onset dystonia, chorea or related movement disorder

Version 3.78
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PanelApp
• Expert Review Red
• London North GLH

Phenotypes

• Joubert syndrome 3
• Joubert syndrome
• Joubert syndrome-3.

Green AHI1 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Joubert syndrome 3, 608629