Information on VPS13B
Basic details
Alt. symbols: CHS1 | COH1
Approved name: vacuolar protein sorting 13 homolog B
Alt. names: Cohen syndrome 1, vacuolar protein sorting 13 homolog B (yeast)
Location: 8q22.2: 99013266 - 99877580 (+)
Gene type: protein_coding, 24 transcripts.
Scores: LoFtool: 0.933000 | pLI: 0.00000000 | LOEUF: 0.650
Normal function
Dysfunction and disease
Cohen syndrome [MIM:216550]. Biallelic mutations in VPS13B lead to Cohen syndrome. This is an autosomal recessive disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonic). [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
COH1 |
Cohen syndrome | AR |
Loss of Function | 216550 |
3 (1 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not been completed yet. It is currently ongoing.
Transcripts of VPS13B
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000441350.2 | 4 | CCDS47903 | protein_coding | 8 | No | 1626 | NM_181661 | |
| 203 | ENST00000358544.7 | 1 | CCDS6280 | Plus Clinical | protein_coding | 62 | No | 14094 | NM_017890 |
| 201 | ENST00000355155.6 | 3 | CCDS6283 | protein_coding | 18 | No | 2822 | NM_015243 | |
| 202 | ENST00000357162.7 | 2 | CCDS6281 | Select | protein_coding | 62 | Yes | 14019 | NM_152564 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| Q3432* |
EX56 | 10397 | c.10294C>T | p.Gln3432Ter | stop_gained | Pathogenic | 3 |
Please mind that full curation (inclusion of all published variants) of this gene has not been completed yet. It is currently ongoing.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in VPS13B
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 851 |
2023 | ARPC5 deficiency leads to severe early onset systemic inflam... | Dis. Model. Mech. | 37382373 |
1 |