Hydrocephalus_Ventriculomegaly

Gene: LDB1

Green List (high evidence)

LDB1 (LIM domain binding 1)
EnsemblGeneIds (GRCh38): ENSG00000198728
EnsemblGeneIds (GRCh37): ENSG00000198728
OMIM: 603451, Gene2Phenotype
LDB1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Exome-wide significant enrichment of LDB1 protein-altering de novo variants (p = 1.11 x 10-15) in a large cerebral ventriculomegaly cohort (>2,697 parent-proband trios). 8 unrelated cases with ventriculomegaly, developmental delay, and dysmorphic features with de novo variants (7 LoF variants truncate LDB1's carboxy-terminal LIM interaction domain & 1 missense).
Sources: Literature
Created: 7 Jan 2025, 12:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital hydrocephalus MONDO:0016349

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital hydrocephalus MONDO:0016349
OMIM
603451
Clinvar variants
Variants in LDB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ldb1 has been classified as Green List (High Evidence).

7 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ldb1 has been classified as Green List (High Evidence).

7 Jan 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LDB1 was added gene: LDB1 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: LDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LDB1 were set to 39680505 Phenotypes for gene: LDB1 were set to Congenital hydrocephalus MONDO:0016349 Review for gene: LDB1 was set to GREEN