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  3. RAB23
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Craniosynostosis

Gene: RAB23

Green List (high evidence)
RAB23 (RAB23, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000112210
EnsemblGeneIds (GRCh37): ENSG00000112210
OMIM: 606144, Gene2Phenotype
RAB23 is in 12 panels

1 review

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Craniosynostosis is an established feature of Carpenter syndrome
Sources: Literature
Created: 3 Jun 2020, 12:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
201000 CARPENTER SYNDROME

Publications

Created: 3 Jun 2020, 12:23 p.m.

Panel version: 0.33

History Filter Activity

5 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAB23 were changed from 201000 CARPENTER SYNDROME to Carpenter syndrome (MIM#201000)

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: rab23 has been classified as Green List (High Evidence).

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: rab23 has been classified as Green List (High Evidence).

3 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Tiong Tan (Victorian Clinical Genetics Services)

gene: RAB23 was added gene: RAB23 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB23 were set to 17503333 Phenotypes for gene: RAB23 were set to 201000 CARPENTER SYNDROME Penetrance for gene: RAB23 were set to Complete Review for gene: RAB23 was set to GREEN