SLC12A2

solute carrier family 12 member 2
OMIM: 600840, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SLC12A2 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

review Not set
Sources
  • Literature
Green SLC12A2 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.25
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • Bilateral sensorineural hearing loss
    • Intellectual disability
    • Secretory defects
    Green SLC12A2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kilquist syndrome
    • deafness
    • intellectual disability
    • dysmorphic features
    • absent salivation
    • ectodermal dysplasia
    • constipation
    • intestinal malrotation
    • multiple congenital anomalies