1. Panels
  2. Optic neuropathy
  3. RAB3GAP1
STRs in panel
Prev Next
Regions in panel
Prev Next

Optic neuropathy

Gene: RAB3GAP1

Red List (low evidence)
RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000115839
EnsemblGeneIds (GRCh37): ENSG00000115839
OMIM: 602536, Gene2Phenotype
RAB3GAP1 is in 10 panels

1 review

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
WARBURG MICRO SYNDROME 1, 600118

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Mar 2019, 3:33 p.m.

Panel version: 1.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
Phenotypes
  • WARBURG MICRO SYNDROME 1, 600118
OMIM
602536
Clinvar variants
Variants in RAB3GAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RAB3GAP1 were changed from to WARBURG MICRO SYNDROME 1, 600118

19 Mar 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RAB3GAP1 were set to

19 Mar 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: RAB3GAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal

19 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RAB3GAP1 was set to