1. Genes and Genomic Entities
  2. SLC4A1

SLC4A1

solute carrier family 4 member 1 (Diego blood group)
OMIM: 109270, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
No list SLC4A1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Nonimmune hydrops fetalis
Green SLC4A1 in Nephrocalcinosis or nephrolithiasis


Level 2: Renal
Version 5.5
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    Phenotypes
    • distal renal tubular acidosis
    • Renal tubular acidosis, distal, AD, 179800
    • Renal tubular acidosis, distal, AR 611590
    Red SLC4A1 in Ductal plate malformation


    Version 1.31

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen, Expert list
    Phenotypes
    • Renal tubular acidosis, distal, AR (611590)
    • Renal tubular acidosis, distal, AD (179800)
    Green SLC4A1 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.123

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Haemolytic Anemia
    • RBC membrane abnormality
    • Cryohydrocytosis,185020
    • Ovalocytosis, SA type, 166900
    • Spherocytosis, type 4, 612653
    Green SLC4A1 in Rare anaemia


    Level 2: Haematology
    Version 3.19
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • 612653 Spherocytosis, type 4
    • Ovalocytosis, SA type, 166900
    • 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis
    • Spherocytosis, type 4, 612653
    • Cryohydrocytosis,185020
    • RBC membrane abnormality
    • Haemolytic Anemia
    • 166900 Ovalocytosis, SA type
    Amber SLC4A1 in Fetal anomalies


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

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Ovalocytosis, SA type, OMIM:166900
    Green SLC4A1 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800
    • RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590
    Green SLC4A1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Distal Renal Tubular Acidosis, Dominant
    • Ovalocytosis
    • Distal renal tubular acidosis
    • Renal tubular acidosis, distal, AD,179800
    • Renal tubular acidosis, distal, AR, 611590
    • Cryohydrocytosis, 185020
    • Ovalocystois, SA type 166900
    • Spherocytoisis type 4, 612653
    • various blood group associations.
    Amber SLC4A1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Ovalocytosis
    • Spherocytosis, type 4, 612653
    • [Malaria, resistance to], 611162
    • Renal tubular acidosis, distal, AD, 179800
    • Renal tubular acidosis, distal, AR, 611590
    • [Blood group, Diego], 110500
    • [Blood group, Waldner], 112010
    • [Blood group, Wright], 112050
    • [Blood group, Froese], 601551
    • [Blood group, Swann], 601550