NEK9

NIMA related kinase 9
OMIM: 609798, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red NEK9 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.225	review	BIALLELIC, autosomal or pseudoautosomal	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 0.416	review	BIALLELIC, autosomal or pseudoautosomal	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 1.2302	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 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	review	BIALLELIC, autosomal or pseudoautosomal	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 0.302	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Lethal congenital contracture syndrome 10, MIM# 617022 Skeletal dysplasia Tags founder
Amber NEK9 in Fetal anomalies Version 1.313	review	BIALLELIC, autosomal or pseudoautosomal	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