LDB1

LIM domain binding 1
OMIM: 603451, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber LDB1 in Hydrocephalus


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital hydrocephalus, MONDO:0016349
Tags
  • Q4_25_promote_green
  • gene-checked
Green LDB1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital hydrocephalus, MONDO:0016349
Tags
  • gene-checked
Amber LDB1 in Intellectual disability


Level 2: Developmental disorders
Version 9.279
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital hydrocephalus, MONDO:0016349
    Tags
    • Q4_25_promote_green
    • gene-checked