Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: BLMEnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 18 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Hypogonadism and premature menopause are reported features of the condition
Sources: LiteratureCreated: 6 Dec 2021, 4:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bloom syndrome MIM#210900
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Bloom syndrome MIM#210900
- OMIM
- 604610
- Clinvar variants
- Variants in BLM
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: blm has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: blm has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: BLM was added gene: BLM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLM were set to 34794894; 29056561; 28846287 Phenotypes for gene: BLM were set to Bloom syndrome MIM#210900 Review for gene: BLM was set to GREEN gene: BLM was marked as current diagnostic