1. Genes and Genomic Entities
  2. SLC4A4

SLC4A4

solute carrier family 4 member 4
OMIM: 603345, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red SLC4A4 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
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES
Green SLC4A4 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
    • PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 604278
    Green SLC4A4 in Renal tubulopathies


    Level 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  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 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
    • 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


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

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