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Prepair 1000+

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well-established gene-disease association; more than 100 unrelated individuals; multiple BLM deficient mouse models demonstrate BS phenotypes such as a high rate of sister-chromatid exchange, immunoglobulin deficiency and development of a variety of cancers (Hodgkin lymphoma/ Leukaemia).
Created: 21 Nov 2024, 2:36 a.m. | Last Modified: 21 Nov 2024, 2:36 a.m.
Panel Version: 1.565

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bloom Syndrome MIM# 210900

Publications

History Filter Activity

21 Nov 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).

21 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BLM were changed from Bloom syndrome, 210900 (3) to Bloom Syndrome MIM# 210900

21 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BLM were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Bloom syndrome, 210900 (3) for gene: BLM

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)