VWA1

von Willebrand factor A domain containing 1
OMIM: 611901, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber VWA1 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.38 Latest signed off version: v4.37 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216 neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 Tags Q1_24_promote_green Q1_24_expert_review
Green VWA1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neuropathy, hereditary motor, with myopathic features OMIM:619216 neuropathy, hereditary motor, with myopathic features MONDO:0030977
Green VWA1 in Hereditary neuropathy or pain disorder Version 4.8 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216 neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 Tags STR