Congenital disorders of glycosylation
Gene: STX5

STX5 (syntaxin 5)
EnsemblGeneIds (GRCh38): ENSG00000162236
EnsemblGeneIds (GRCh37): ENSG00000162236
OMIM: 603189, Gene2Phenotype
STX5 is in 2 panels

1 review

Ida Ertmanska (Genomics England Curator)

Red List (low evidence)

PMID: 34711829 Linders et al., 2021
Report of a consanguineous Estonian family with 3 affected sibs, homozygous for STX5: c.163A>G (p.Met55Val), deceased shortly after birth. Unaffected mother confirmed heterozygous for the STX variant, paternal DNA not available. Affected individuals presented withearly fatal multisystem disease, including severe liver disease, skeletal abnormalities and abnormal glycosylation.

STX5 is putatively associated with ?Congenital disorder of glycosylation, type IIaa, OMIM:620454 (OMIM accessed 17th Feb 2026).
Sources: Literature
Created: 17 Feb 2026, 12:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Congenital disorder of glycosylation, type IIaa, OMIM:620454

Publications

34711829

Created: 17 Feb 2026, 12:11 p.m.

Panel version: 7.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

?Congenital disorder of glycosylation, type IIaa, OMIM:620454

OMIM

603189

Clinvar variants

Variants in STX5

Penetrance

None

Publications

34711829

Panels with this gene

History Filter Activity

17 Feb 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: STX5 was added gene: STX5 was added to Congenital disorders of glycosylation. Sources: Literature Mode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STX5 were set to 34711829 Phenotypes for gene: STX5 were set to ?Congenital disorder of glycosylation, type IIaa, OMIM:620454 Review for gene: STX5 was set to RED

Congenital disorders of glycosylation Gene: STX5