UNC13D

unc-13 homolog D
OMIM: 608897, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green UNC13D in Vasculitis


Level 2: Immunological disorders
Version 1.0

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

Green UNC13D in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.0

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

Red UNC13D in Leukodystrophy - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green UNC13D 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, 3, 608898 (3)

Green UNC13D in Additional findings_Paediatric


Level 2: Screening
Version 1.0

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

Green UNC13D 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, 3, MIM#608898

Green UNC13D 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, 3, MIM#608898
Tags
  • treatable
  • immunological

Green UNC13D in Prepair 500+


Level 2: Screening
Version 3.0

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