VWA1

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

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber VWA1 in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216 neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977
Green VWA1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	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 Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	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
Red VWA1_GGCGCGGAGC STR in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216 neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 Tags STR NGS Not Validated