Microcephaly
Gene: BLM
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 fsCreated: 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
Gene: blm has been classified as Green List (High Evidence).
Publications for gene: BLM were set to 30214071
Gene: blm has been classified as Green List (High Evidence).
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