1. Genes and Genomic Entities
  2. SLC4A11

SLC4A11

solute carrier family 4 member 11
OMIM: 610206, Gene2Phenotype

8 panels

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

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.13

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


Version 3.10
Latest signed off version: v3.2 (22 Mar 2023)

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


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
Green SLC4A11 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

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 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		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
    Green SLC4A11 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Corneal dystrophy, Fuchs endothelial, 4, 613268
    • Corneal endothelial dystrophy, autosomal recessive, 217700
    • Corneal endothelial dystrophy and perceptive deafness, 217400