1. Genes and Genomic Entities
  2. SLC4A11

SLC4A11

solute carrier family 4 member 11
OMIM: 610206, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green SLC4A11 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.14

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Corneal Dystrophy, Recessive
  • Corneal endothelial dystrophy 2, autosomal recessive, 217700
  • Congenital Hereditary Endothelial Dystrophy
Green SLC4A11 in Corneal dystrophy


Level 2: Ophthalmology
Version 4.7
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 4 613268
  • Corneal endothelial dystrophy and perceptive deafness 217400
  • Corneal endothelial dystrophy, autosomal recessive 217700
Red SLC4A11 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
  • CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
Green SLC4A11 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 613268
    Green SLC4A11 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert
    • UKGTN
    Phenotypes
    • #217400:Corneal endothelial dystrophy and perceptive deafness
    • #217700:Corneal endothelial dystrophy 2, autosomal recessive
    Amber SLC4A11 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.281
    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
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Corneal endothelial dystrophy 2, autosomal recessive, 217700
    • Corneal endothelial dystrophy and perceptive deafness, 217400
    • Corneal dystrophy, Fuchs endothelial, 4, 613268
    Red SLC4A11 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
    • NHS GMS
    Phenotypes
    • Corneal endothelial dystrophy and perceptive deafness, 217400
    • Corneal dystrophy, Fuchs endothelial, 4, 613268
    • Corneal endothelial dystrophy 2, autosomal recessive, 217700