STX16

syntaxin 16
OMIM: 603666, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green STX16 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohypoparathyroidism type 1b MIM#: 603233

Green STX16 in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy


Level 2: Endocrine disorders
Version 0.13

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohypoparathyroidism type 1b MIM#: 603233
Tags
  • SV/CNV

Green STX16 in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pseudohypoparathyroidism, type IB, MIM#603233
Tags
  • SV/CNV

Green STX16 in Imprinting disorders


Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pseudohypoparathyroidism type 1b MIM no: 603233
Tags
  • SV/CNV

Green STX16 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pseudohypoparathyroidism, type IB MIM#603233
Tags
  • treatable
  • endocrine

Green STX16 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review 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