SLC26A2

solute carrier family 26 member 2
OMIM: 606718, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green SLC26A2 in Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Recessive
  • Epiphyseal dysplasia, multiple, 4

Green SLC26A2 in Limb disorders


Version 2.65
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Diastrophic dysplasia, broad bone-platyspondylic variant
    • Diastrophic dysplasia
    • Epiphyseal dysplasia, multiple, 4
    • Atelosteogenesis, type II

    Green SLC26A2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.137
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • ACG1B,DD,rMED
    • multiple epiphyseal dysplasia
    • Multiple Epiphyseal Dysplasia, Recessive
    • Epiphyseal dysplasia, multiple, 4

    Green SLC26A2 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4
    • ACHONDROGENESIS TYPE 1B
    • ATELOSTEOGENESIS TYPE 2
    • DIASTROPHIC DYSPLASIA

    No list SLC26A2 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.37
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed

    Green SLC26A2 in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ACHONDROGENESIS TYPE 1B 600972
    • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900
    • ATELOSTEOGENESIS TYPE 2 256050
    • DIASTROPHIC DYSPLASIA 222600

    Green SLC26A2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.57
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Orofacial Clefting with skeletal features
    • Atelosteogenesis II (includes clefting), 256050
    • De la Chapelle dysplasia (includes clefting), 256050
    • McAlister Dysplasia
    • Diastrophic dysplasia (includes clefting), 222600
    • Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600
    • DIASTROPHIC DYSPLASIA
    • DTD

    Amber SLC26A2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Diastrophic dysplasia, 222600
    • Atelosteogenesis II, 256050
    • Achondrogenesis Ib, 600972
    • Epiphyseal dysplasia, multiple, 4, 226900
    • Diastrophic dysplasia, broad bone-platyspondylic variant, 222600
    • De la
    • Chapelle dysplasia, 256050

    Green SLC26A2 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Diastrophic dysplasia, 222600
    • Epiphyseal dysplasia, multiple, 4, 226900
    • Achondrogenesis Ib, 600972
    • De la Chapelle dysplasia, 256050
    • Diastrophic dysplasia, broad bone-platyspondylic variant, 222600
    • Atelosteogenesis, type II, 256050