Intellectual disability
Gene: MAL

MAL (mal, T-cell differentiation protein)
EnsemblGeneIds (GRCh38): ENSG00000172005
EnsemblGeneIds (GRCh37): ENSG00000172005
OMIM: 188860, Gene2Phenotype
MAL is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Not associated with a phenotype in OMIM, Gen2Phen or MONDO. One variant (c.326C>A, p.Ala109Asp) has been reported in a consanguineous family with rare, hypomyelinating leukodystrophy similar to Pelizaeus-Merzbacher disease (PMID: 35217805). Functional studies in PMID: 35217805 suggest that the variant results in mislocalisation of MAL, affecting proteolipid protein 1 (PLP1) distribution. PLP1 has previously been associated with Pelizaeus-Merzbacher disease.
Created: 12 Jul 2022, 1:28 p.m. | Last Modified: 12 Jul 2022, 1:28 p.m.

Panel Version: 3.1625

Created: 12 Jul 2022, 1:28 p.m.
Last Modified: 12 Jul 2022, 1:28 p.m.
Panel version: 3.1625

Julia Baptista (Faculty of Health, University of Plymouth)

I don't know

Single consanguineous family reported with two affected children (DD and nystagmus). New onset ataxia and cerebellar volume loss with patchy dysmyelination. Homozygous missense variant identified by exome analysis segregated with the condition. Functional data suggested that p.(Ala109Asp) severely affects protein folding of MAL, leading to mislocalization in the ER.
Sources: Literature
Created: 11 Jul 2022, 12:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
developmental delay; nystagmus; progressive motor deterioration; dysmyelination

Publications

35217805

Created: 11 Jul 2022, 12:03 p.m.

Panel version: 3.1624

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

developmental delay
nystagmus
progressive motor deterioration
dysmyelination

OMIM

188860

Clinvar variants

Variants in MAL

Penetrance

None

Publications

35217805

Panels with this gene

History Filter Activity

12 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mal has been classified as Amber List (Moderate Evidence).

11 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Julia Baptista (Faculty of Health, University of Plymouth)

gene: MAL was added gene: MAL was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAL were set to 35217805 Phenotypes for gene: MAL were set to developmental delay; nystagmus; progressive motor deterioration; dysmyelination Review for gene: MAL was set to AMBER

Intellectual disability Gene: MAL