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  3. STX3
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Syndromic Retinopathy

Gene: STX3

Green List (high evidence)
STX3 (syntaxin 3)
EnsemblGeneIds (GRCh38): ENSG00000166900
EnsemblGeneIds (GRCh37): ENSG00000166900
OMIM: 600876, Gene2Phenotype
STX3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported. STX3 isoform B (STX3B) predominates in the retina, so mutations in the STX3 gene that affect both isoform A (STX3A) and STX3B cause both retinal and gastrointestinal disease (RDMVID), whereas mutations in STX3 affecting only the STX3A transcript cause only diarrhoea.
Sources: Expert Review
Created: 22 Jul 2021, 11:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy and microvillus inclusion disease, MIM#619446

Publications

Created: 22 Jul 2021, 11:44 p.m.

Panel version: 0.176

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Retinal dystrophy and microvillus inclusion disease, MIM#619446
OMIM
600876
Clinvar variants
Variants in STX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stx3 has been classified as Green List (High Evidence).

22 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STX3 were changed from Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446 to Retinal dystrophy and microvillus inclusion disease, MIM#619446

22 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stx3 has been classified as Green List (High Evidence).

22 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STX3 was added gene: STX3 was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: STX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STX3 were set to 24726755; 29266534; 25358429; 29282386; 30909251; 29282386 Phenotypes for gene: STX3 were set to Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446 Review for gene: STX3 was set to GREEN