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Mendeliome

Gene: RAB33B

Green List (high evidence)

RAB33B (RAB33B, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000172007
EnsemblGeneIds (GRCh37): ENSG00000172007
OMIM: 605950, Gene2Phenotype
RAB33B is in 5 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Different variants reported in at least 5 SMC families
Created: 4 Apr 2022, 9:28 a.m. | Last Modified: 4 Apr 2022, 9:28 a.m.
Panel Version: 0.12573

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Smith-McCort dysplasia 2 (MIM#615222)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Smith-McCort dysplasia 2 (MIM#615222)
OMIM
605950
Clinvar variants
Variants in RAB33B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rab33b has been classified as Green List (High Evidence).

6 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAB33B were changed from to Smith-McCort dysplasia 2 (MIM#615222)

6 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAB33B were set to

6 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAB33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAB33B was added gene: RAB33B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAB33B was set to Unknown