Limb disorders
Gene: RAB23

RAB23 (RAB23, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000112210
EnsemblGeneIds (GRCh37): ENSG00000112210
OMIM: 606144, Gene2Phenotype
RAB23 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported
Created: 29 Jul 2016, 1:36 p.m.

Created: 29 Jul 2016, 1:36 p.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.1103

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carpenter syndrome 201000

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

Created: 17 Jun 2016, 8:07 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Expert Review Green
London South East RGC GSTT
Viapath

Phenotypes

Carpenter syndrome 201000
Polydactyly
ACROCEPHALOPOLYSYNDACTYLY TYPE 2

OMIM

606144

Clinvar variants

Variants in RAB23

Penetrance

None

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

9 Dec 2018, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: RAB23 were changed from Carpenter syndrome 201000; Polydactyly to Carpenter syndrome 201000; Polydactyly; ACROCEPHALOPOLYSYNDACTYLY TYPE 2

13 Aug 2018, Gel status: 4