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  3. VPS13B
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Cerebral Palsy

Gene: VPS13B

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

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

2 individuals with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Created: 24 Jun 2024, 5:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cohen syndrome, MIM#216550

Publications

Created: 24 Jun 2024, 5:06 a.m.

Panel version: 1.294

History Filter Activity

24 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps13b has been classified as Red List (Low Evidence).

24 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps13b has been classified as Red List (Low Evidence).

24 Jun 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: VPS13B was added gene: VPS13B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13B were set to PMID: 38693247 Phenotypes for gene: VPS13B were set to Cohen syndrome, MIM#216550 Review for gene: VPS13B was set to RED