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  1. Genes and Genomic Entities
  2. SLC26A2

SLC26A2

solute carrier family 26 member 2
OMIM: 606718, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green SLC26A2 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.239

3 reviews Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Amber SLC26A2 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.78

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Skeletal dysplasia (various)

    Amber SLC26A2 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.328

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Achondrogenesis Ib, MIM# 600972

    Green SLC26A2 in Mendeliome


    Version 1.3499

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Achondrogenesis 1B, MIM#600972
    • Atelosteogenesis, type II, MIM#256050
    • Diastrophic dysplasia, MIM#222600
    • Epiphyseal dysplasia, multiple, 4, MIM#226900

    Green SLC26A2 in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.53

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SLC26A2 in Short Long Bones with Advanced Carpal Bone Age


    Level 2: Skeletal disorders
    Version 0.1

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SLC26A2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

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

    Green SLC26A2 in Multiple epiphyseal dysplasia and pseudoachondroplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.11

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Multiple Epiphyseal Dysplasia, Recessive
    • multiple epiphyseal dysplasia
    • Epiphyseal dysplasia, multiple, 4
    • ACG1B,DD,rMED

    Green SLC26A2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Achondrogenesis Ib, 600972 (3)

    Green SLC26A2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Achondrogenesis 1B

    Green SLC26A2 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

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

    Green SLC26A2 in Fetal anomalies


    Version 1.465

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Achondrogenesis 1B, MIM#600972
    • Atelosteogenesis, type II, MIM#256050
    • Diastrophic dysplasia, MIM#222600
    • Epiphyseal dysplasia, multiple, 4, MIM#226900

    Green SLC26A2 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • diastrophic dysplasia MONDO:0009107
    • multiple epiphyseal dysplasia MONDO:0016648
    • atelosteogenesis type II MONDO:0009727
    • achondrogenesis type IB MONDO:0010966

    Red SLC26A2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Achondrogenesis 1B, MIM#600972
    Tags
    • for review

    Green SLC26A2 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Achondrogenesis Ib MIM#600972
    • Atelosteogenesis, type II MIM#256050
    • De la Chapelle dysplasia MIM#256050
    • Diastrophic dysplasia MIM#222600
    • Diastrophic dysplasia, broad bone-platyspondylic variant MIM#222600
    • Epiphyseal dysplasia, multiple, 4 MIM#226900