BLM |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- BLM (HGNC:1058) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- BLM RecQ like helicase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- BS, RECQL3, RECQ2
- %HI
- 37.81(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.75(Read more about gnomAD LOEUF score)
- Cytoband
- 15q26.1
- Genomic Coordinates
-
GRCh37/hg19: chr15:91260577-91359396 NCBI Ensembl UCSC GRCh38/hg38: chr15:90717346-90816166 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000057.4 ENST00000355112.8 (Read more about MANE Select)
- Function
- ATP-dependent DNA helicase that unwinds single- and double- stranded DNA in a 3'-5' direction (PubMed:9388193, PubMed:24816114, PubMed:25901030). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288, PubMed:34606619). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:21325134). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Sti... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-24449
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
02/09/2022
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Bloom syndrome Monarch
HI Evidence Comments:
Bloom syndrome is an autosomal recessive disorder characterized by chromosomal instability and increased cancer risk, caused by biallelic mutations in the gene BLM.
BLM gene has a definitive gene-disease association with Bloom Syndrome (per ClinGen GDV group), the gene-disease association with other diseases is unclear now.
Heterozygous deleterious mutations in the gene BLM may result in an increased risk for breast cancer and colon cancer. (PMIDs: 31614901,12242432,12702560, 28647934,26778106, 26358404)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)