1. Panels
  2. Newborns main panel
  3. MAD2L2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: MAD2L2

Amber List (moderate evidence)
MAD2L2 (mitotic arrest deficient 2 like 2)
EnsemblGeneIds (GRCh38): ENSG00000116670
EnsemblGeneIds (GRCh37): ENSG00000116670
OMIM: 604094, Gene2Phenotype
MAD2L2 is in 5 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 27500492 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MAD2L2. Added phenotypes Fanconi anemia, complementation group V for gene: MAD2L2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MAD2L2. Added phenotypes Fanconi anemia, complementation group V for gene: MAD2L2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MAD2L2. Added phenotypes Fanconi anemia, complementation group V for gene: MAD2L2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: MAD2L2 were changed from ?Fanconi anemia, complementation group V; Fanconi anemia, complementation group V to Fanconi anemia, complementation group V

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MAD2L2. Added phenotypes Fanconi anemia, complementation group V for gene: MAD2L2 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to MAD2L2. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes ?Fanconi anemia, complementation group V for gene: MAD2L2

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: MAD2L2 was added gene: MAD2L2 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal