DHDDS

dehydrodolichyl diphosphate synthase subunit
OMIM: 608172, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber DHDDS in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.43 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM# 617836 Myoclonic Epilepsy Parkinsonism Ataxia Intellectual disability
Green DHDDS in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.78 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type 1bb, MIM# 613861
Green DHDDS in Mendeliome Version 1.3512	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM#617836 Congenital disorder of glycosylation, type 1bb, MIM# 613861 Tags founder
Green DHDDS in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM#617836 Congenital disorder of glycosylation, MIM#613861
Green DHDDS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM#617836
Green DHDDS in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.60 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Green DHDDS in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.182 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Congenital disorder of glycosylation, type 1bb, MIM# 613861
Green DHDDS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 59, 613861 (3)
Red DHDDS in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM#617836
Green DHDDS in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 59, MIM#613861 Congenital disorder of glycosylation, type 1bb, MIM# 613861
Green DHDDS in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 59, MIM#613861 Congenital disorder of glycosylation, type 1bb, MIM# 613861