STX11:Ensemblv115

syntaxin 11
OMIM: 605014, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green STX11 in Vasculitis


Level 2: Immunological disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green STX11 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552

Red STX11 in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 4 603552

Green STX11 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)

Green STX11 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552

Green STX11 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
Tags
  • treatable
  • immunological

Green STX11 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552