NEK9

Red NEK9 in Skeletal Dysplasia_Fetal

Level 2: Skeletal disorders
Version 0.239

Sources

• Expert Review Red
• Expert list

Phenotypes

• Lethal congenital contracture syndrome 10, MIM# 617022
• Skeletal dysplasia

Tags

• founder

Amber NEK9 in Arthrogryposis

Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

Sources

• Expert Review Amber
• Expert Review

Phenotypes

• Lethal congenital contracture syndrome 10, MIM# 617022
• Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262

Amber NEK9 in Mendeliome

Version 1.3512

Sources

• Expert Review Amber
• Victorian Clinical Genetics Services

Phenotypes

• NEK9-related lethal skeletal dysplasia MONDO:0014870
• Lethal congenital contracture syndrome 10, MIM# 617022
• Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262
• Skeletal dysplasia

Amber NEK9 in Multiple pterygium syndrome_Fetal akinesia sequence

Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.5

Sources

• Expert Review Amber
• Literature

Phenotypes

• Lethal congenital contracture syndrome 10, MIM# 617022

Tags

• founder

Red NEK9 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.346

Sources

• Expert Review Red
• Expert list

Phenotypes

• NEK9-related lethal skeletal dysplasia MONDO:0014870

Tags

• founder

Amber NEK9 in Fetal anomalies

Version 1.465

Sources

• Expert Review Amber
• Genomics England PanelApp
• Expert list

Phenotypes

• Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660
• NEK9-related lethal skeletal dysplasia, MONDO:0014870
• Lethal congenital contracture syndrome 10, OMIM:617022
• Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262