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  3. VPS13B
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Joubert syndrome and other neurological ciliopathies

Gene: VPS13B

Amber List (moderate evidence)
VPS13B (vacuolar protein sorting 13 homolog B)
EnsemblGeneIds (GRCh38): ENSG00000132549
EnsemblGeneIds (GRCh37): ENSG00000132549
OMIM: 607817, Gene2Phenotype
VPS13B is in 15 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well reported to cause Cohen syndrome. Amber for this gene panel due to phenotypic overlap although not strictly a cilipoathy.
Sources: Expert Review
Created: 13 May 2020, 2:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cohen syndrome (MIM# 216550)

Created: 13 May 2020, 2:58 a.m.

Panel version: 0.48

History Filter Activity

14 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps13b has been classified as Amber List (Moderate Evidence).

14 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps13b has been classified as Amber List (Moderate Evidence).

13 May 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: VPS13B was added gene: VPS13B was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13B were set to Cohen syndrome (MIM# 216550) Review for gene: VPS13B was set to AMBER