1. Genes and Genomic Entities
  2. SLC12A9

SLC12A9

solute carrier family 12 member 9
OMIM: 616861, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SLC12A9 in Fetal anomalies


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects
Tags
  • gene-checked
Green SLC12A9 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects
    Tags
    • gene-checked
    Amber SLC12A9 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q1_26_promote_green