RLIM

ring finger protein, LIM domain interacting
OMIM: 300379, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green RLIM in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.186
Latest signed off version: v6.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Tonne-Kalscheuer syndrome, OMIM:300978
Green RLIM in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • INTELLECTUAL DISABILITY
    Green RLIM in Intellectual disability


    Level 2: Developmental disorders
    Version 9.375
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Mental retardation, X-linked 61, 300978
    • Intellectual disability
    Tags
    • missense