STX16

syntaxin 16
OMIM: 603666, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red STX16 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Pseudohypoparathyroidism, type IB OMIM:603233
  • pseudohypoparathyroidism type 1B:MONDO:0011301
Amber STX16 in Familial hypoparathyroidism

Level 3: Disorders of calcium homeostasis
Level 2: Endocrine disorders
Version 2.14
Latest signed off version: v2.2 (25 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pseudohypoparathyroidism, type IB OMIM:603233
  • pseudohypoparathyroidism type 1B:MONDO:0011301
Tags
  • non-coding-known-pathogenic
  • cnv
  • Q4_22_MOI
  • Q4_22_promote_green