Adult onset leukodystrophy
Gene: MAN2B1
Comment on list classification: There is only one family with white matter abnormalities confirmed in adulthood. All other reported cases with white matter abnormalities detected by MRI are during childhood/ adolescence.Created: 30 May 2023, 2:32 p.m. | Last Modified: 30 May 2023, 2:32 p.m.
Panel Version: 3.6
PMID:15534274 reported that MRI from three adult siblings with alpha-mannosidosis (AM) showed cerebellar atrophy and periventricular white matter changes.
PMID:26212233 reported that five of ten patients who have had MRI from the cohort of 34 patients with AM had occipital white matter signal abnormalities. However the age of these patients ranged from 7 to 17 years.
PMID:33317989 reported cerebral white matter signal abnormalities in 11 (85%) out of 13 untreated AM patients. In addition, cortical atrophy (62%), corpus callosum thinning (23%) and enlargement of perivascular spaces in white matter (38%) was observed. The age of onset (first symptom) of AM ranged from neonatal period to 4 years. However, four patients were currently adults with MRI taken during their adulthood.
This gene has been associated with alpha-mannosidosis in both OMIM (MIM #248500) and Gene2Phenotype ('Definitive' rating).Created: 30 May 2023, 1:40 p.m. | Last Modified: 30 May 2023, 2:27 p.m.
Panel Version: 3.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, alpha-, types I and II, OMIM:248500
Publications
White matter changes may occur in adulthood.
Sources: Expert listCreated: 21 Jun 2020, 6:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, alpha-, types I and II, MIM# 248500
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_23_promote_green was removed from gene: MAN2B1.
Gene: man2b1 has been classified as Red List (Low Evidence).
Tag Q2_23_promote_green tag was added to gene: MAN2B1.
Gene: man2b1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II, MIM# 248500 to Mannosidosis, alpha-, types I and II, OMIM:248500
Publications for gene: MAN2B1 were set to
gene: MAN2B1 was added gene: MAN2B1 was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM# 248500 Review for gene: MAN2B1 was set to GREEN gene: MAN2B1 was marked as current diagnostic