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Cataract

Gene: STXBP2

Red List (low evidence)
STXBP2 (syntaxin binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000076944
EnsemblGeneIds (GRCh37): ENSG00000076944
OMIM: 601717, Gene2Phenotype
STXBP2 is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No evidence that cataracts is a feature of this condition.
Created: 15 Apr 2020, 4:33 a.m. | Last Modified: 15 Apr 2020, 4:33 a.m.
Panel Version: 0.129

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 5 MIM#613101

Created: 15 Apr 2020, 4:33 a.m.
Last Modified: 15 Apr 2020, 4:33 a.m.
Panel version: 0.129

History Filter Activity

15 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: stxbp2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STXBP2 was added gene: STXBP2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STXBP2 was set to Unknown