MAD2L2

mitotic arrest deficient 2 like 2
OMIM: 604094, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red MAD2L2 in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Curated sources
  • Expert list
Phenotypes
  • MDS
  • Fanconi anemia
  • AML
  • Squamous cell carcinoma: oral, GI, vulvar
  • Class: BM failure FA, (typ AR)

Red MAD2L2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.9

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group V, MIM# 617243

    Red MAD2L2 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.3

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group V, MIM# 617243

    Red MAD2L2 in Mendeliome


    Version 2.588

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group V, MIM# 617243

    Red MAD2L2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.7

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Fanconi anemia, complementation group V, MIM# 617243