BICD2

BICD cargo adaptor 2
OMIM: 609797, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red BICD2 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 Red Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), BICD2-related
Green BICD2 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.201 Component of the following Super Panels: Malformations of cortical development_Superpanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291
Red BICD2 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.39 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Green BICD2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.427 Component of the following Super Panels: Neuromuscular Superpanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291
Green BICD2 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.91	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, BICD2-related (MONDO#0700092)
Amber BICD2 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.328	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spinal muscular atrophy, lower extremity-predominant 2B, prenatal-onset (MIM#609797)
Green BICD2 in Mendeliome Version 1.3512	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder (MONDO#0700092), BICD2-related Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290 MONDO:0014121 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291
Amber BICD2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodevelopmental disorder, BICD2-related (MONDO#0700092)
Red BICD2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290
Amber BICD2 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.15 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291
Green BICD2 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.68 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290 MONDO:0014121 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291 dHMN/dSMA
Green BICD2 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	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Phenotypes distal myopathy MONDO:0018949
Green BICD2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital spinal muscular atrophy
Green BICD2 in Fetal anomalies Version 1.465	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Literature Genetic Health Queensland Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291
Red BICD2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290 MONDO:0014121 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291 Neurodevelopmental disorder (MONDO#0700092), BICD2-related