CENPF

Green CENPF in Hydrocephalus

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

Sources

• NHS GMS
• Expert Review Green
• Literature

Phenotypes

• Stromme syndrome, OMIM:243605

Green CENPF in Limb disorders

Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• Polydactyly
• Stromme syndrome 243605

Green CENPF in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.67
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• Other
• Expert list

Phenotypes

• MPD
• microcephalic primordial dwarfism
• Stromme syndrome, 243605
• Microcephaly

Red CENPF in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Expert Review Red
• Leeds Genetics Laboratory

Phenotypes

• Ciliary dyskinesia, primary, 31, 616369

Red CENPF in Respiratory ciliopathies including non-CF bronchiectasis

Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• NHS GMS

Phenotypes

• Ciliary dyskinesia, primary, 31, 616369

Amber CENPF in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.175

Component of the following Super Panels:

Sources

• Expert Review Amber
• Expert list

Phenotypes

• Stromme syndrome, 243605
• bilateral renal hypoplasia
• Duodenal atresia
• Hydronephrosis

Green CENPF 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
• NHS GMS

Phenotypes

• Stromme syndrome, 243605
• Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

Green CENPF in Fetal anomalies

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

Sources

• Expert Review Green
• Expert list

Phenotypes

• Stromme syndrome, 243605

Green CENPF in DDG2P

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

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• Stromme syndrome

Green CENPF 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
• Other

Phenotypes

• Stromme syndrome 243605
• Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

Green CENPF in Structural eye disease

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

Sources

• Expert Review Green
• Expert list

Phenotypes

• Stromme syndrome, OMIM:243605, MONDO:0009477

Green CENPF in Rare multisystem ciliopathy disorders

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

Sources

• Expert Review Green
• Orphanet
• Radboud University Medical Center, Nijmegen

Phenotypes

• Stromme syndrome, 243605
• Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

Green CENPF 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
• Orphanet
• Radboud University Medical Center, Nijmegen

Phenotypes

• Stromme syndrome, 243605
• Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

Green CENPF 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

• Stromme syndrome, 243605
• Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

Green CENPF 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
• Orphanet
• Radboud University Medical Center, Nijmegen

Phenotypes

• Stromme syndrome, OMIM:243605
• Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

No list CENPF in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.21
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Removed
• Orphanet
• Radboud University Medical Center, Nijmegen

Phenotypes

• Stromme syndrome, 243605
• Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

Tags

• curated_removed

Red CENPF 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

• Stromme syndrome, 243605
• Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

Green CENPF in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Stromme syndrome, 243605