STX16

syntaxin 16
OMIM: 603666, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green STX16 in Severe early-onset obesity


Level 2: Endocrinology
Version 5.21
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Pseudohypoparathyroidism, type IB OMIM:603233
  • Obesity, HP:0001513
Amber STX16 in Familial hypoparathyroidism


Level 2: Endocrinology
Version 3.5
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Literature
Phenotypes
  • Pseudohypoparathyroidism, type IB OMIM:603233
  • pseudohypoparathyroidism type 1B:MONDO:0011301
Tags
  • non-coding-known-pathogenic
  • cnv
Amber STX16 in Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis


Level 2: Endocrinology
Version 1.10
Latest signed off version: v1.0 (14 Sep 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Pseudohypoparathyroidism Ib, OMIM:603233
  • pseudohypoparathyroidism type 1B, MONDO:0011301
Tags
  • non-coding-known-pathogenic
  • cnv