PanelApp (staging)
  1. Genes and Genomic Entities
  2. SLC4A4

SLC4A4

solute carrier family 4 member 4
OMIM: 603345, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SLC4A4 in Alternating Hemiplegia and Hemiplegic Migraine


Level 2: Neurology and neurodevelopmental disorders
Version 0.57

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278
  • hemiplegic migraine

Green SLC4A4 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278
  • Hemiplegic migraine

Red SLC4A4 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278

    Green SLC4A4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278

    Green SLC4A4 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)

    Red SLC4A4 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Renal tubular acidosis, proximal, with ocular abnormalities

    Red SLC4A4 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Renal tubular acidosis, proximal, with ocular abnormalities (MIM#604278)

    Green SLC4A4 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)

    Red SLC4A4 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278
    Tags
    • for review

    Green SLC4A4 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.17

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_Tubulopathies v38.1.0
    Phenotypes
    • Hemiplegic migraine
    • Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278