CAMLG
Basic information
Region (hg38): 5:134738495-134752157
Links
Phenotypes
GenCC
Source:
- congenital disorder of glycosylation, type IIz (Limited), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Congenital disorder of glycosylation,, type IIz | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Biochemical; Neurologic | 35262690 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAMLG gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 12 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 12 | 0 | 0 |
Variants in CAMLG
This is a list of pathogenic ClinVar variants found in the CAMLG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-134741071-A-G | not specified | Uncertain significance (Jun 16, 2023) | ||
| 5-134741071-A-T | not specified | Uncertain significance (Aug 02, 2021) | ||
| 5-134741153-G-A | not specified | Uncertain significance (Jul 11, 2022) | ||
| 5-134741273-A-C | not specified | Uncertain significance (Sep 06, 2022) | ||
| 5-134741284-C-T | not specified | Uncertain significance (Sep 16, 2022) | ||
| 5-134741318-C-T | not specified | Uncertain significance (Nov 23, 2022) | ||
| 5-134741335-C-T | not specified | Uncertain significance (Jan 26, 2023) | ||
| 5-134741384-T-G | not specified | Uncertain significance (Feb 16, 2023) | ||
| 5-134741422-G-A | not specified | Uncertain significance (Jul 20, 2021) | ||
| 5-134741446-G-T | not specified | Uncertain significance (Apr 17, 2024) | ||
| 5-134741450-C-T | not specified | Uncertain significance (Aug 10, 2021) | ||
| 5-134741527-A-G | Congenital disorder of glycosylation, type IIz | Pathogenic (Jan 23, 2023) | ||
| 5-134750850-A-G | not specified | Uncertain significance (Aug 17, 2021) | ||
| 5-134750912-C-G | not specified | Uncertain significance (Dec 16, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CAMLG | protein_coding | protein_coding | ENST00000297156 | 4 | 13657 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.000618 | 0.913 | 125732 | 0 | 15 | 125747 | 0.0000596 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.645 | 142 | 165 | 0.859 | 0.00000861 | 1901 |
| Missense in Polyphen | 58 | 63.95 | 0.90696 | 807 | ||
| Synonymous | 0.182 | 67 | 68.9 | 0.972 | 0.00000388 | 605 |
| Loss of Function | 1.52 | 7 | 12.9 | 0.542 | 7.63e-7 | 145 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000163 | 0.000163 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000532 | 0.0000527 |
| Middle Eastern | 0.000163 | 0.000163 |
| South Asian | 0.000144 | 0.000131 |
| Other | 0.000173 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Likely involved in the mobilization of calcium as a result of the TCR/CD3 complex interaction. Binds to cyclophilin B.;
- Pathway
- Prolactin
(Consensus)
Recessive Scores
- pRec
- 0.195
Intolerance Scores
- loftool
- 0.663
- rvis_EVS
- -0.38
- rvis_percentile_EVS
- 27.69
Haploinsufficiency Scores
- pHI
- 0.0851
- hipred
- N
- hipred_score
- 0.412
- ghis
- 0.579
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.843
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Caml
- Phenotype
- mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; immune system phenotype; endocrine/exocrine gland phenotype; cellular phenotype;
Gene ontology
- Biological process
- receptor recycling;defense response;signal transduction;epidermal growth factor receptor signaling pathway;viral process
- Cellular component
- endoplasmic reticulum;membrane;integral component of membrane
- Molecular function
- protein binding