Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: RAB23

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

CSS well defined part of syndrome ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carpenter syndrome, 201000

Publications

17503333

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

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RAB23; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carpenter syndrome

Publications

17503333

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

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Richard Scott (Genomics England Curator)

Comment on list classification: Current diagnostic
Created: 1 Feb 2016, 11:25 a.m.

Created: 1 Feb 2016, 11:25 a.m.

Panel version: 0.99

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Eligibility statement prior genetic testing
Expert list

Phenotypes

Carpenter syndrome 201000
201000

OMIM

606144

Clinvar variants

Variants in RAB23

Penetrance

Complete

Publications

17503333

Panels with this gene

History Filter Activity

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Carpenter syndrome 201000 for gene: RAB23

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to RAB23. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Feb 2016, Gel status: 4