KIF7

Red KIF7 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 KIF7 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34

Sources

• Emory Genetics Laboratory

Amber KIF7 in Hydrocephalus

Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Amber
• Literature

Phenotypes

• ?Hydrolethalus syndrome 2, OMIM:614120

Tags

• watchlist

Green KIF7 in Thoracic dystrophies

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

Sources

• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

• ACROCALLOSAL SYNDROME, ACLS / JOUBERT SYNDROME 12 #200990

No list KIF7 in Limb disorders

Version 4.18
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

• Al-Gazali-Bakalinova syndrome 607131
• Hydrolethalus syndrome 2 614120
• Acrocallosal syndrome 200990
• Joubert syndrome 12 200990
• Polydactyly

Tags

• curated_removed

No list KIF7 in Ductal plate malformation

Version 1.29

Sources

• Expert Review Removed
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list

Phenotypes

• Joubert syndrome 12 (200990)

Tags

• curated_removed

Red KIF7 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 KIF7 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 Red
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Red KIF7 in Ocular coloboma

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

Sources

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

Phenotypes

• Joubert syndrome
• Acrocallosal syndrome

Red KIF7 in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Phenotypes

• ACROCALLOSAL SYNDROME, 200990

Red KIF7 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Green KIF7 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

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

Phenotypes

• Joubert syndrome 12 200990
• Acrocallosal syndrome 200990
• Al-Gazali-Bakalinova syndrome 607131
• Hydrolethalus syndrome 2 614120

Green KIF7 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

• Ciliopathy genes associated with cystic kidney disease
• Acrocallosal syndrome 200990
• Joubert syndrome 12 200990

Green KIF7 in Fetal anomalies

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

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• AUTOSOMAL RECESSIVE MENTAL RETARDATION
• ACROCALLOSAL SYNDROME

Green KIF7 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

• ACROCALLOSAL SYNDROME 200990
• AUTOSOMAL RECESSIVE MENTAL RETARDATION

Green KIF7 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• ACROCALLOSAL SYNDROME
• ACLS

Green KIF7 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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

• Hydrolethalus syndrome 2, 614120Acrocallosal syndrome, 200990Joubert syndrome 12, 200990
• ACROCALLOSAL SYNDROME

Red KIF7 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

Red KIF7 in Structural eye disease

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

Sources

• Expert Review Red
• NHS GMS

Phenotypes

• Joubert syndrome
• Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990
• Acrocallosal syndrome

Green KIF7 in Rare multisystem ciliopathy disorders

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

Sources

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

Phenotypes

• Joubert syndrome 12 200990
• Acrocallosal syndrome 200990

Green KIF7 in Ophthalmological ciliopathies

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

Component of the following Super Panels:

Sources

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

Phenotypes

• Joubert syndrome 12 200990
• Acrocallosal syndrome 200990

Green KIF7 in Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.18
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Joubert syndrome 12 200990
• Acrocallosal syndrome 200990

Green KIF7 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

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

Phenotypes

• Joubert syndrome 12 200990
• Acrocallosal syndrome 200990

Red KIF7 in Childhood onset dystonia, chorea or related movement disorder

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

Sources

• PanelApp
• Expert Review Red
• London North GLH

Phenotypes

• Joubert syndrome 12 200990
• Acrocallosal syndrome 200990

Green KIF7 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Acrocallosal syndrome, 200990
• ?Al-Gazali-Bakalinova syndrome, 607131
• Joubert syndrome 12, 200990
• ?Hydrolethalus syndrome 2, 614120