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  3. VAMP1
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Arthrogryposis

Gene: VAMP1

Green List (high evidence)
VAMP1 (vesicle associated membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139190
EnsemblGeneIds (GRCh37): ENSG00000139190
OMIM: 185880, Gene2Phenotype
VAMP1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe neonatal hypotonia and joint laxity, though joint contractures described in some affected individuals.
Sources: Expert list
Created: 13 Jul 2020, 2:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 25, MIM# 618323

Publications

Created: 13 Jul 2020, 2:53 a.m.

Panel version: 0.182

History Filter Activity

13 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vamp1 has been classified as Green List (High Evidence).

13 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vamp1 has been classified as Green List (High Evidence).

13 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VAMP1 was added gene: VAMP1 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VAMP1 were set to 28253535 Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25, MIM# 618323 Review for gene: VAMP1 was set to GREEN