Gene Symbol:
RAB3GAP2
HGNC:17168
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q41
Filters:

Definitive classifications

Martsolf syndrome 1
Submitted as: OMIM:212720
AR
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

Warburg micro syndrome 2
Submitted as: OMIM:614225
AR
12/15/2018
Evaluated
11/30/2023
Submitted

Supportive classifications

cataract-intellectual disability-hypogonadism syndrome
Submitted as: Orphanet:1387
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Warburg micro syndrome
Submitted as: Orphanet:2510
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive spastic paraplegia type 69
Submitted as: Orphanet:401830
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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