Leukodystrophy - adult onset
Gene: ITM2BEnsemblGeneIds (GRCh38): ENSG00000136156
EnsemblGeneIds (GRCh37): ENSG00000136156
OMIM: 603904, Gene2Phenotype
ITM2B is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
White matter abnormalities have been reported in 11 at-risk individuals from the original large family reported.
Sources: OtherCreated: 1 Apr 2024, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ABri amyloidosis MONDO:0008306
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- ABri amyloidosis MONDO:0008306
- OMIM
- 603904
- Clinvar variants
- Variants in ITM2B
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: itm2b has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: itm2b has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: ITM2B was added gene: ITM2B was added to Leukodystrophy - adult onset. Sources: Other Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITM2B were set to 10775542 Phenotypes for gene: ITM2B were set to ABri amyloidosis MONDO:0008306 Mode of pathogenicity for gene: ITM2B was set to Other Review for gene: ITM2B was set to AMBER