Hydrocephalus_Ventriculomegaly
Gene: LDB1EnsemblGeneIds (GRCh38): ENSG00000198728
EnsemblGeneIds (GRCh37): ENSG00000198728
OMIM: 603451, Gene2Phenotype
LDB1 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ldb1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ldb1 has been classified as Green List (High Evidence).
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