Genomics England
GMS Panels
Panels
Genes and Entities

ITM2B

integral membrane protein 2B
OMIM: 603904
PanelMode of inheritanceDetails
2 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dementia, familial British, OMIM:176500, ABri amyloidosis, MONDO:0008306, Dementia, familial Danish, OMIM:117300, ADan amyloidosis, MONDO:0007297
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 6.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dementia, familial British, OMIM:176500, ABri amyloidosis, MONDO:0008306, Dementia, familial Danish, OMIM:117300, ADan amyloidosis, MONDO:0007297