1. Panels
  2. Anophthalmia or microphthalmia
  3. RAB18
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Anophthalmia or microphthalmia

Gene: RAB18

Green List (high evidence)
RAB18 (RAB18, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000099246
EnsemblGeneIds (GRCh37): ENSG00000099246
OMIM: 602207, Gene2Phenotype
RAB18 is in 9 panels

2 reviews

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert
Created: 10 May 2016, 11:48 a.m.
Created: 10 May 2016, 11:48 a.m.

Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Warburg Micro Syndrome
  • Warburg micro syndrome 3, 614222
OMIM
602207
Clinvar variants
Variants in RAB18
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

RAB18 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RAB18 was added to Anophthalmia/microphthalmiapanel. Sources: Illumina TruGenome Clinical Sequencing Services