NEK1

NIMA related kinase 1
OMIM: 604588, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green NEK1 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892
Green NEK1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green NEK1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Orofaciodigital syndrome II , MIM# 252100
Red NEK1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Green NEK1 in Mendeliome Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Orofaciodigital syndrome II , MIM# 252100 Amyotrophic lateral sclerosis, susceptibility to, 24, MIM# 617892
Green NEK1 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Green NEK1 in Skeletal Ciliopathies Level 2: Skeletal disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Green NEK1 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Green NEK1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services NHS GMS Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Short rib thoracic dysplasia 6 with or without polydactyly - 263520 Short rib-polydactyly syndrome, type IIA, 263520 Short Rib Polydactyly Syndrome SRPS type 2 (Majewski)
Green NEK1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
Green NEK1 in Additional findings_Paediatric Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Green NEK1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Orofaciodigital syndrome II , MIM# 252100
Green NEK1 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Orofaciodigital syndrome II , MIM# 252100
Green NEK1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM#263520
Red NEK1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520