Information on PLEKHM1
Basic details
Alt. symbols: KIAA0356
Approved name: pleckstrin homology and RUN domain containing M1
Alt. names: pleckstrin homology domain containing, family M (with RUN domain) member 1
Location: 17q21.31: 45435900 - 45490758 (-)
Gene type: protein_coding, 27 transcripts.
Scores: LoFtool: 0.503000 | pLI: 0.84054321 | LOEUF: 0.467
Normal function
Dysfunction and disease
Osteopetrosis, autosomal dominant 3 [MIM:618107] | ?Osteopetrosis, autosomal recessive 6 [MIM:611497] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
OPTA3 |
Osteopetrosis, autosomal dominant 3 | AD |
618107 |
0 (0 fams) | |
| OPTB6 |
Osteopetrosis, autosomal recessive 6 | AR |
611497 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of PLEKHM1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000579197.5 | nonsense_mediated_decay | No | 4995 | XM_054318030 | ||||
| 201 | ENST00000430334.8 | CCDS32671 | Select | protein_coding | 12 | Yes | 5240 | NM_014798 | |
| 202 | ENST00000446609.7 | nonsense_mediated_decay | No | 2825 | XM_011525525 | ||||
| 219 | ENST00000700125.1 | protein_coding | No | NM_001352825 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
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 PLEKHM1
| ID | Year | Title | Journal | PMID | Variants |
|---|