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  3. MAD2L2
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Chromosome Breakage Disorders

Gene: MAD2L2

Red List (low evidence)
MAD2L2 (mitotic arrest deficient 2 like 2)
EnsemblGeneIds (GRCh38): ENSG00000116670
EnsemblGeneIds (GRCh37): ENSG00000116670
OMIM: 604094, Gene2Phenotype
MAD2L2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Sources: Expert list
Created: 6 Apr 2020, 2:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group V, MIM# 617243

Publications

Created: 6 Apr 2020, 2:14 a.m.

Panel version: 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Fanconi anemia, complementation group V, MIM# 617243
OMIM
604094
Clinvar variants
Variants in MAD2L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mad2l2 has been classified as Red List (Low Evidence).

6 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAD2L2 was added gene: MAD2L2 was added to Chromosome Breakage Disorders. Sources: Expert list Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAD2L2 were set to 27500492 Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243 Review for gene: MAD2L2 was set to RED