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Limb disorders

Gene: RAB23

Green List (high evidence)

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.

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

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

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to RAB23. Panel: Limb disorders Phenotypes for gene RAB23 were set to Carpenter syndrome 201000, Polydactyly

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to RAB23. Panel: Limb disorders UKGTN was added to RAB23. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to RAB23. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to RAB23. Panel: Limb disorders Expert list was added to RAB23. Panel: Limb disorders Model of inheritance for gene RAB23 was set to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to RAB23. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RAB23 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RAB23 was created by Ellen McDonagh