1. Genes and Genomic Entities
  2. SLC35B2

SLC35B2

solute carrier family 35 member B2
OMIM: 610788, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber SLC35B2 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.24
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Abnormality of the skeletal system
    • Short long bone
    • Short stature
    • Abnormality of epiphysis morphology
    • Scoliosis
    • Multiple joint dislocation
    • Global develpmental delay
    • Intellectual disability
    • CNS hypomyelination
    • Abnormality of the corpus callosum
    • Cerebral atrophy
    • Abnormality of the amniotic fluid
    Amber SLC35B2 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.46
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Abnormality of the skeletal system
    • Short long bone
    • Short stature
    • Abnormality of epiphysis morphology
    • Scoliosis
    • Multiple joint dislocation
    • Global develpmental delay
    • Intellectual disability
    • CNS hypomyelination
    • Abnormality of the corpus callosum
    • Cerebral atrophy
    • Abnormality of the amniotic fluid
    Red SLC35B2 in DDG2P


    Version 6.447
    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 Red
    • DD-Gene2Phenotype
    Phenotypes
    • SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy
    Amber SLC35B2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.375
    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
    • Literature
    Phenotypes
    • Abnormality of the skeletal system
    • Short long bone
    • Short stature
    • Abnormality of epiphysis morphology
    • Scoliosis
    • Multiple joint dislocation
    • Global develpmental delay
    • Intellectual disability
    • CNS hypomyelination
    • Abnormality of the corpus callosum
    • Cerebral atrophy
    • Abnormality of the amniotic fluid