Pigmentary skin disorders

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 4 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

I don't know

?Single case in literature. Amber on FA/Bloom syndrome GMS panel
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP V; FANCV

Publications

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • FANCV
  • FANCONI ANEMIA, COMPLEMENTATION GROUP V
OMIM
604094
Clinvar variants
Variants in MAD2L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 2

Added New Source, Set Phenotypes, Set publications, Status Update

Catherine Snow (Genomics England)

Source Expert Review Amber was added to MAD2L2. Added phenotypes FANCV; FANCONI ANEMIA, COMPLEMENTATION GROUP V for gene: MAD2L2 Publications for gene MAD2L2 were changed from to 27500492 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to MAD2L2. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: MAD2L2 was added gene: MAD2L2 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal