1. Genes and Genomic Entities
  2. SLC4A4

SLC4A4

solute carrier family 4 member 4
OMIM: 603345, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green SLC4A4 in Unexplained young onset end-stage renal disease


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Renal tubular acidosis, proximal, with ocular abnormalities, 604278
    • Proximal Renal Tubular Acidosis with Ocular Abnormalities
    • Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive).
    Red SLC4A4 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES
    Green SLC4A4 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 604278
    Green SLC4A4 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Renal tubular acidosis, proximal, with ocular abnormalities, 604278
    • Proximal Renal Tubular Acidosis with Ocular Abnormalities
    • Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive).
    Green SLC4A4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.12
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Renal tubular acidosis, proximal, with ocular abnormalities, 604278
    • PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES (PRTA-OA)
    Green SLC4A4 in Structural eye disease


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Renal tubular acidosis, proximal, with ocular abnormalities, 604278
    Green SLC4A4 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Renal tubular acidosis, proximal, with ocular abnormalities, 604278