UNC13D

unc-13 homolog D
OMIM: 608897, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green UNC13D in Vasculitis


Level 2: Immunological disorders
Version 0.82

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green UNC13D in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898
Tags
  • treatable

Green UNC13D in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 0.186

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898
    Tags
    • treatable

    Red UNC13D in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 3
    • OMIM #608898

    Red UNC13D in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.140

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 3 608898

    Green UNC13D in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)

    Green UNC13D in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 3

    Green UNC13D in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)

    Green UNC13D in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898
    Tags
    • treatable
    • immunological

    Green UNC13D in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)