MAD2L2

mitotic arrest deficient 2 like 2
OMIM: 604094, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MAD2L2 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.7

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

Green MAD2L2 in COVID-19 research


Level 2: Viral research
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • ?Fanconi anemia, complementation group V, 617243

Amber MAD2L2 in Pigmentary skin disorders


Version 1.16
Latest signed off version: v1.4 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • FANCV
  • FANCONI ANEMIA, COMPLEMENTATION GROUP V

Green MAD2L2 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.21
Latest signed off version: v2.2 (18 Feb 2020)

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

Amber MAD2L2 in Confirmed Fanconi anaemia or Bloom syndrome


Version 1.13
Latest signed off version: v1.7 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • ?Fanconi anemia, complementation group V, 617243
  • 617243 ?Fanconi anemia, complementation group V