1. Genes and Genomic Entities
  2. UNC13D

UNC13D

unc-13 homolog D
OMIM: 608897, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green UNC13D in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial 3, 608898
  • Diseases of Immune Dysregulation
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • HPLH3
  • HLH3
  • FHL3
  • Fever, HSM, HLH, cytopenias,
Red UNC13D in White matter disorders and cerebral calcification - narrow panel


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Green UNC13D in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    • North West GLH
    • London North GLH
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • ESID Registry 20171117
    • GRID V2.0
    • GOSH PID v.8.0
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial 3, 608898
    • FHL3
    • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
    • HPLH3
    • HLH3
    • Fever, HSM, HLH, cytopenias,
    • Diseases of Immune Dysregulation
    Tags
    • age-specific-variation
    Red UNC13D in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Amber UNC13D in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert list
    Phenotypes
    • Increased risk of lymphoma
    • predisposition to childhood anaplastic large cell lymphoma
    • predisposition to leukemia
    • increased susceptibility to malignancy
    Amber UNC13D in Bleeding and platelet disorders


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    Amber UNC13D in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    • Literature
    Phenotypes
    • Pancytopenia
    • ?Hydrops fetalis
    Green UNC13D in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hemophagocytic lymphohistiocytosis, familial, 3, 608898