Intellectual disability syndromic and non-syndromic
Gene: VPS41

VPS41 (VPS41, HOPS complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000006715
EnsemblGeneIds (GRCh37): ENSG00000006715
OMIM: 605485, Gene2Phenotype
VPS41 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Another 9 individuals from 5 unrelated families reported.

Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia were present in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy.
Created: 7 May 2021, 2:22 a.m. | Last Modified: 7 May 2021, 2:22 a.m.

Panel Version: 0.3741

Single individual reported with homozygous canonical splice site variant resulting in exon 7 skipping, and global developmental delay and generalized dystonia. He attained a few words and voluntary limb movements but never sat unsupported. He had pale optic discs and an axonal neuropathy. From 6 years of age, his condition began to deteriorate, with reduced motor abilities and alertness. An MRI of the brain showed atrophy of the superior cerebellar vermis and slimming of the posterior limb of the corpus callosum. VPS41 is component of the HOPS complex and other genes in the complex have been implicated in movement disorders.
Sources: Literature
Created: 10 Oct 2020, 12:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay

Publications

Created: 10 Oct 2020, 12:44 a.m.

Panel version: 0.3938

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Spinocerebellar ataxia-29 (SCAR29), MIM#619389
Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay

OMIM

605485

Clinvar variants

Variants in VPS41

Penetrance

None

Publications

Panels with this gene