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Microcephaly

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Microcephaly is a feature of Bloom Syndrome

PMID: 30214071;
- in a cohort of microcephalic patients (<=-2SD), 1 family with 2 affecteds are homozygous for a nonsense variant

PMID: 29056561
- 1x proband. At 36 yrs of age her head circumference was 47.8cm (-6.2SD)

PMID: 23928670;
- 1x patient of a consanguineous Dutch family. At 4 years of age: head circumference 45.9 cm (3.2 SDS). Homozygous nonsense
- 1x patient of a consanguineous Turkish family. At 5 years of age: head circumference 46.3 cm (2.7 SDS). Homozygous nonsense

PMID: 25129257;
- 1 family with 3 affecteds. 1 had a head circumference of -4SD. Homozygous fs
Created: 31 Aug 2020, 6:51 a.m. | Last Modified: 31 Aug 2020, 6:51 a.m.
Panel Version: 0.203

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bloom syndrome (MIM#210900)

Publications

Created: 31 Aug 2020, 5:59 a.m.

Panel version: 0.203

History Filter Activity

31 Aug 2020, 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).

31 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BLM were set to 30214071

31 Aug 2020, 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).

31 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: BLM was added gene: BLM was added to Microcephaly. Sources: Literature Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLM were set to 30214071 Phenotypes for gene: BLM were set to Bloom syndrome (MIM#210900) Penetrance for gene: BLM were set to unknown Review for gene: BLM was set to RED