DOLK

dolichol kinase
OMIM: 610746, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green DOLK in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 2.0	1 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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type Im MIM#610768
Green DOLK in Mendeliome Version 2.0	1 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 2.0	1 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 2.0	1 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 2.0	1 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 1.0	0 reviews	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 1.0	1 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 1.0	1 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 2.0	1 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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Im, MIM# 610768
Red DOLK 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 Congenital disorder of glycosylation, type Im, MIM# 610768 DK1-CDG, MONDO:0012556