Growth failure
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Proportionate pre- and postnatal growth deficiency is a key feature.Created: 12 Feb 2021, 9:35 a.m. | Last Modified: 6 Aug 2021, 12:08 a.m.
Panel Version: 0.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bloom syndrome, MIM# 210900
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Victorian Clinical Genetics Services
- Phenotypes
-
- 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
6 Aug 2021, 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).
6 Aug 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BLM were changed from Bloom syndrome, 210900; 210900 Bloom syndrome; Bloom to Bloom syndrome, MIM# 210900
19 Jul 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BLM was added gene: BLM was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLM were set to Bloom syndrome, 210900; 210900 Bloom syndrome; Bloom