Wilms Tumour
Gene: BLM
BLM (Bloom syndrome RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 18 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Wilms tumour reported in condition.
Sources: Expert list, Expert ReviewCreated: 26 Sep 2024, 12:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilms tumor, MONDO:0006058; Bloom syndrome, MONDO:0008876; Bloom syndrome, MIM#210900
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Wilms tumor, MONDO:0006058
- Bloom syndrome, MONDO:0008876
- Bloom syndrome, MIM#210900
- OMIM
- 604610
- Clinvar variants
- Variants in BLM
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Fetal anomalies
- Additional findings_Paediatric
- Lipodystrophy_Lipoatrophy
- Mendeliome
- Photosensitivity Syndromes
- Prepair 500+
- Wilms Tumour
- Growth failure
- Sarcoma non-soft tissue
History Filter Activity
9 Oct 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: blm has been classified as Green List (High Evidence).
26 Sep 2024, Gel status: 3
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: blm has been classified as Green List (High Evidence).
26 Sep 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: BLM was added gene: BLM was added to Wilms Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLM were set to Wilms tumor, MONDO:0006058; Bloom syndrome, MONDO:0008876; Bloom syndrome, MIM#210900 Review for gene: BLM was set to GREEN