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Severe Paediatric Disorders

Gene: VPS13A

Green List (high evidence)

VPS13A (vacuolar protein sorting 13 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000197969
EnsemblGeneIds (GRCh37): ENSG00000197969
OMIM: 605978, Gene2Phenotype
VPS13A is in 9 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: VPS13A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Choreoacanthocytosis, 200150 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene VPS13A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene VPS13A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to VPS13A.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to VPS13A. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: VPS13A was added gene: VPS13A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: VPS13A was set to