Adult onset leukodystrophy
Gene: ITM2BEnsemblGeneIds (GRCh38): ENSG00000136156
EnsemblGeneIds (GRCh37): ENSG00000136156
OMIM: 603904, Gene2Phenotype
ITM2B is in 5 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 5:56 p.m. | Last Modified: 30 Jan 2023, 5:56 p.m.
Panel Version: 2.46
Associated with relevant phenotypes in OMIM (OMIM:176500 & OMIM:117300), but not associated with these phenotypes in Gen2Phen. Two terminating variants have been reported, one for each of the above phenotypes (PMID: 10391242, 10781099).Created: 5 Jan 2023, 11:37 a.m. | Last Modified: 5 Jan 2023, 11:37 a.m.
Panel Version: 2.16
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 5 Jan 2023, 11:33 a.m. | Last Modified: 5 Jan 2023, 11:33 a.m.
Panel Version: 2.16
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Familial British Dementia/Familial Danish Dementia . Evidence: MIM: 176500 & 117300. British and Danish founder mutations.Created: 22 Dec 2022, 2:01 p.m. | Last Modified: 22 Dec 2022, 2:01 p.m.
Panel Version: 2.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial British Dementia/Familial Danish Dementia
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Dementia, familial British, OMIM:176500
- ABri amyloidosis, MONDO:0008306
- Dementia, familial Danish, OMIM:117300
- ADan amyloidosis, MONDO:0007297
- OMIM
- 603904
- Clinvar variants
- Variants in ITM2B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: ITM2B. Tag Q1_23_NHS_review was removed from gene: ITM2B.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to ITM2B. Source NHS GMS was added to ITM2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: ITM2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: ITM2B. Tag Q1_23_NHS_review tag was added to gene: ITM2B.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: itm2b has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ITM2B were changed from to Dementia, familial British, OMIM:176500; ABri amyloidosis, MONDO:0008306; Dementia, familial Danish, OMIM:117300; ADan amyloidosis, MONDO:0007297
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ITM2B were set to
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: ITM2B was added gene: ITM2B was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: ITM2B was set to