Gene Symbol:
VPS13B
HGNC:2183
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8q22.2
Filters:

ClinGen classifications

Genomics England PanelApp classifications

Cohen syndrome
Submitted as: OMIM:216550
AR
02/18/2020
Evaluated
03/31/2021
Submitted

Invitae classifications

Cohen syndrome
Submitted as: OMIM:216550
AR
08/23/2023
Evaluated
11/30/2023
Submitted

Laboratory for Molecular Medicine classifications

Cohen syndrome
Submitted as: OMIM:216550
AR
06/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

Myriad Women’s Health classifications

Orphanet classifications

Cohen syndrome
Submitted as: Orphanet:193
AR
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

Cohen syndrome
Submitted as: OMIM:216550
AR
07/22/2015
Evaluated
09/11/2023
Submitted

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