Cerebral vascular malformations

Gene: ITGB1

I don't know

Comment on list classification: There are two patients reported in literature with Vein of Galen aneurysmal malformation and LoF variants in ITGB1 (presumed monoallelic but not specified). This gene should be rated Amber for Cerebral vascular malformations until more evidence is reported.

Created: 29 Oct 2025, 12:22 p.m. | Last Modified: 29 Oct 2025, 12:22 p.m.

Panel Version: 4.7

PMID: 37978175 Zhao et al., 2023
KVOGM89-1 and KVOGM105-1 patient exomes respectively contained the rare, damaging, variants p.Ser785fs (unphased) and c.2331-2 A>G (transmitted) in ITGB1 (Supplementary Fig. 4 and Supplementary Table 10). Both patients were males of European ancestry, who presented with intracranial haemorrhage, progressive macrocephaly, and shunt-dependent hydrocephalus - diagnosed with Vein of Galen malformation.

This gene is not yet associated with any conditions in OMIM (accessed 29th Oct 2025).

Created: 29 Oct 2025, 12:03 p.m. | Last Modified: 29 Oct 2025, 12:03 p.m.

Panel Version: 4.5

Mode of inheritance
Unknown

Phenotypes
Vein of Galen aneurysmal malformation, HP:0030713

Publications

• 37978175

I don't know

37978175 (including PMID 30578106 cohort): combined 2 probands, 1 unphased frameshift and 1 transmitted splice variant, in silico modelling predicted NMD, pathogenicity given as 'likely damaging'.
Sources: Literature

Created: 15 Apr 2025, 9:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Vein of Galen Malformation

Publications

• 37978175