VAMP1

vesicle associated membrane protein 1
OMIM: 185880, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green VAMP1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Myasthenic syndrome, congenital, 25, MIM# 618323
Amber VAMP1 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Amber Phenotypes Autosomal dominant spastic ataxia 1, 108600 Spastic ataxia 1, autosomal dominant, 108600 Tags founder
Amber VAMP1 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Spastic ataxia 1, autosomal dominant, MIM# 108600 Tags founder
Amber VAMP1 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Amber Phenotypes Spastic ataxia 1, autosomal dominant, 108600 Tags founder
Amber VAMP1 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Spastic ataxia 1, autosomal dominant, MIM# 108600 Tags founder
Green VAMP1 in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes presynaptic CMS Myasthenic syndrome, congenital, 25, MIM# 618323
Green VAMP1 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert list Genomics England PanelApp Expert Review Green Phenotypes Myasthenic syndrome, congenital, 25, MIM# 618323
Green VAMP1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS BabySeq Category C gene Expert Review Green Phenotypes Myasthenic syndrome, congenital, 25, MIM# 618323 Tags treatable neurological