DOLK

dolichol kinase
OMIM: 610746, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green DOLK in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.44 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768
Amber DOLK in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.33 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type Im MIM#610768
Green DOLK in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768
Green DOLK in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768
Green DOLK in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation type Im, 610768
Green DOLK in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768
Green DOLK in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Im, 610768 (3)
Green DOLK in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768
Green DOLK in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768
Amber DOLK in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Genetic Health Queensland Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768
Green DOLK in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Im, 610768 (3)
Red DOLK in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Congenital disorder of glycosylation, type Im, MIM# 610768 DK1-CDG, MONDO:0012556