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Mendeliome

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Melanie Marty (Victorian Clinical Genetics Services)

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, 1:27 a.m. | Last Modified: 7 Apr 2022, 1:36 a.m.
Panel Version: 0.12722

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
chondrodysplasia with hypomyelinating leukodystrophy, intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269
OMIM
610788
Clinvar variants
Variants in SLC35B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC35B2 were changed from Leukodystrophy, MONDO:0019046, SLC35B2-related to Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269

7 Apr 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC35B2 were changed from chondrodysplasia with hypomyelinating leukodystrophy, intellectual disability to Leukodystrophy, MONDO:0019046, SLC35B2-related

7 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

7 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

7 Apr 2022, Gel status: 0

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

Melanie Marty (Victorian Clinical Genetics Services)

gene: SLC35B2 was added gene: SLC35B2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35B2 were set to PMID: 35325049 Phenotypes for gene: SLC35B2 were set to chondrodysplasia with hypomyelinating leukodystrophy, intellectual disability Review for gene: SLC35B2 was set to AMBER