Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: BLM

Green List (high evidence)

BLM (Bloom syndrome RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000197299
EnsemblGeneIds (GRCh37): ENSG00000197299
OMIM: 604610, Gene2Phenotype
BLM is in 18 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Hypogonadism and premature menopause are reported features of the condition
Sources: Literature
Created: 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

History Filter Activity

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: blm has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: blm has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 1

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