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  3. SLC35B2
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Leukodystrophy - paediatric

Gene: SLC35B2

Amber List (moderate evidence)
SLC35B2 (solute carrier family 35 member B2)
EnsemblGeneIds (GRCh38): ENSG00000157593
EnsemblGeneIds (GRCh37): ENSG00000157593
OMIM: 610788, Gene2Phenotype
SLC35B2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein.
Sources: Literature
Created: 7 Apr 2022, 3:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269

Publications

Created: 7 Apr 2022, 3:31 a.m.

Panel version: 0.282

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046, SLC35B2-related
OMIM
610788
Clinvar variants
Variants in SLC35B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc35b2 has been classified as Amber List (Moderate Evidence).

7 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc35b2 has been classified as Amber List (Moderate Evidence).

7 Apr 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC35B2 was added gene: SLC35B2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35B2 were set to 35325049 Phenotypes for gene: SLC35B2 were set to Leukodystrophy, MONDO:0019046, SLC35B2-related Review for gene: SLC35B2 was set to AMBER