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  2. Leukodystrophy - paediatric
  3. STX11
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Leukodystrophy - paediatric

Gene: STX11

Red List (low evidence)
STX11 (syntaxin 11)
EnsemblGeneIds (GRCh38): ENSG00000135604
EnsemblGeneIds (GRCh37): ENSG00000135604
OMIM: 605014, Gene2Phenotype
STX11 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

It is unclear whether leukodystrophy is a feature of the condition. There are no reports of the gene associated with white matter changes.
Sources: Expert list
Created: 19 Jan 2020, 9:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 4 603552

Created: 19 Jan 2020, 9:40 a.m.

Panel version: 0.45

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 4 603552
OMIM
605014
Clinvar variants
Variants in STX11
Penetrance
None
Panels with this gene

History Filter Activity

19 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: STX11 was added gene: STX11 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4 603552 Review for gene: STX11 was set to RED