Pigmentary skin disordersGene: MAD2L2
?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
FANCONI ANEMIA, COMPLEMENTATION GROUP V; FANCV
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
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)
Source Expert Review Green was added to MAD2L2. Rating Changed from Red List (low evidence) to Green List (high evidence)
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