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  2. Renal Tubulopathies and related disorders
  3. STX16
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Renal Tubulopathies and related disorders

Gene: STX16

Green List (high evidence)
STX16 (syntaxin 16)
EnsemblGeneIds (GRCh38): ENSG00000124222
EnsemblGeneIds (GRCh37): ENSG00000124222
OMIM: 603666, Gene2Phenotype
STX16 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note multiple cases reported of recurrent 3-4kb deletion.
Sources: Expert list
Created: 30 Jan 2020, 7:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Pseudohypoparathyroidism, type IB, MIM#603233

Publications

Created: 30 Jan 2020, 7:56 a.m.

Panel version: Imported from Calcium and Phosphate disorders panel version 0.34

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Pseudohypoparathyroidism, type IB, MIM#603233
OMIM
603666
Clinvar variants
Variants in STX16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STX16 was added gene: STX16 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: STX16 were set to 27338644; 15579741; 14561710; 24438374 Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB, MIM#603233