ISPD

isoprenoid synthase domain containing
OMIM: 614631, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green ISPD in Lissencephaly and Band Heterotopia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Tags new gene name
Green ISPD in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.427 Component of the following Super Panels: Neuromuscular Superpanel	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ISPD in Cataract Level 2: Ophthalmological disorders Version 0.375	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MIM#614643 Tags new gene name
Green ISPD 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 Tags new gene name
Green ISPD in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.91	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 Walker–Warburg syndrome Tags new gene name
Green ISPD in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.132	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Tags new gene name
Green ISPD in Mendeliome Version 1.3512	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 Tags SV/CNV new gene name
Green ISPD in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 Tags SV/CNV new gene name
Green ISPD in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 Tags new gene name
Green ISPD in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ISPD in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 Tags new gene name
Green ISPD in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.63 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 Tags new gene name
Green ISPD in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) Tags new gene name
Green ISPD in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Green ISPD in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Tags new gene name
Green ISPD in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) Tags new gene name
Red ISPD in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052