STX16

syntaxin 16
OMIM: 603666, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green STX16 in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy


Level 2: Endocrine disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
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 2.0

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

Green STX16 in Imprinting disorders


Version 2.0

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

Green STX16 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert list
  • Expert Review Green
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 2.0

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