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Newborns main panel

Gene: STX16

Amber List (moderate evidence)
STX16 (syntaxin 16)
EnsemblGeneIds (GRCh38): ENSG00000124222
EnsemblGeneIds (GRCh37): ENSG00000124222
OMIM: 603666, Gene2Phenotype
STX16 is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

Gene REMOVED since need of maternal DNA.
Created: 7 Jul 2023, 9:41 a.m. | Last Modified: 7 Jul 2023, 9:51 a.m.
Panel Version: 0.147
Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Phenotype due to maternally inherited STX16 deletion, would not be able to distinguish based on initial WGS result
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 7 Jul 2023, 9:51 a.m.
Panel version: 0.146

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Pseudohypoparathyroidism, type IB
OMIM
603666
Clinvar variants
Variants in STX16
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pseudohypoparathyroidism, type IB for gene: STX16

14 Jul 2023, Gel status: 2

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: STX16 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

14 Jul 2023, Gel status: 2

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: STX16 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

5 Jul 2023, Gel status: 2

Set mode of pathogenicity, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene STX16 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Pseudohypoparathyroidism, type IB for gene: STX16

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to STX16. Added phenotypes Pseudohypoparathyroidism, type IB for gene: STX16 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to STX16. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pseudohypoparathyroidism, type IB for gene: STX16

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: STX16 was added gene: STX16 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown