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  3. STXBP3
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Deafness_IsolatedAndComplex

Gene: STXBP3

Green List (high evidence)
STXBP3 (syntaxin binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000116266
EnsemblGeneIds (GRCh37): ENSG00000116266
OMIM: 608339, Gene2Phenotype
STXBP3 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

10 individuals from 5 families reported.
Sources: Literature
Created: 7 May 2021, 2:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation

Publications

Created: 7 May 2021, 2:51 a.m.

Panel version: 1.70

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Very Early Onset Inflammatory Bowel Disease
  • Bilateral Sensorineural Hearing Loss
  • Immune Dysregulation
OMIM
608339
Clinvar variants
Variants in STXBP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stxbp3 has been classified as Green List (High Evidence).

7 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stxbp3 has been classified as Green List (High Evidence).

7 May 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: STXBP3 was added gene: STXBP3 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STXBP3 were set to 33891011 Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation Review for gene: STXBP3 was set to GREEN