NEK1

Green NEK1 in Thoracic dystrophies

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

Sources

• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Short rib-polydactyly syndrome, type IIA, 263520
• Short Rib Polydactyly Syndrome

No list NEK1 in Limb disorders

Version 5.2
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Removed
• Victorian Clinical Genetics Services
• Other

Phenotypes

• Short-rib thoracic dysplasia 6 with or without polydactyly 263520
• Polydactyly

Tags

• curated_removed

No list NEK1 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

• Short-rib thoracic dysplasia 6 with or without polydactyly (263520)

Tags

• curated_removed

Red NEK1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Green NEK1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Short rib thoracic dysplasia 6 with or without polydactyly - 263520
• SRPS type 2 (Majewski)
• Short Rib Polydactyly Syndrome
• Short rib-polydactyly syndrome, type IIA, 263520

Green NEK1 in Adult onset neurodegenerative disorder

Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Sources

• Expert Review Green
• NHS GMS
• Yorkshire and North East GLH

Phenotypes

• {Amyotrophic lateral sclerosis, susceptibility to, 24}, OMIM:617892
• amyotrophic lateral sclerosis, susceptibility to, 24, MONDO:0054750

Green NEK1 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• SHORT RIB-POLYDACTYLY SYNDORME, TYPE II
• SHORT RIB-POLYDACTYLY SYNDROME, TYPE II
• Short-rib thoracic dysplasia 6 with or without polydactyly, 263520

Tags

• polygenic

No list NEK1 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green NEK1 in Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.69

Sources

• Expert Review Green
• ClinGen
• Research
• Literature

Phenotypes

• Amyotrophic lateral sclerosis, susceptibility to, 24, OMIM:617892
• amyotrophic lateral sclerosis, susceptibility to, 24, MONDO:0054750

Green NEK1 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520

Tags

• monogenic-polygenic

Green NEK1 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY
• SRTD6

Red NEK1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Red
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Short-rib thoracic dysplasia 6 with or without polydactyly, 263520

Green NEK1 in Rare multisystem ciliopathy disorders

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

Sources

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

Phenotypes

• Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
• Short-rib thoracic dysplasia 6 with or without polydactyly

Amber NEK1 in Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.6
Latest signed off version: v3.5 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Expert list

Phenotypes

• Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520

Tags

• watchlist

Green NEK1 in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

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

Phenotypes

• Short-rib thoracic dysplasia 6 with or without polydactyly
• Short-rib thoracic dysplasia 6 with or without polydactyly, 263520

Red NEK1 in Childhood onset dystonia, chorea or related movement disorder

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Red
• London North GLH

Green NEK1 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Short-rib thoracic dysplasia 6 with or without polydactyly, 263520