PanelApp (test)
  1. Genes and Genomic Entities
  2. SLC35B2

SLC35B2

solute carrier family 35 member B2
OMIM: 610788, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SLC35B2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269

Amber SLC35B2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269

Amber SLC35B2 in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.308

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, MONDO:0019046, SLC35B2-related