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  3. MAL
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Leukodystrophy - paediatric

Gene: MAL

Amber List (moderate evidence)
MAL (mal, T-cell differentiation protein)
EnsemblGeneIds (GRCh38): ENSG00000172005
EnsemblGeneIds (GRCh37): ENSG00000172005
OMIM: 188860, Gene2Phenotype
MAL is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family with two affected siblings reported, with homozygous missense variant, some functional data.
Sources: Literature
Created: 14 Jul 2022, 12:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 28, MIM# 620978

Publications

Created: 14 Jul 2022, 12:58 a.m.

Panel version: 0.313

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 28, MIM# 620978
OMIM
188860
Clinvar variants
Variants in MAL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAL were changed from Leukodystrophy MONDO:0019046, MAL-related to Leukodystrophy, hypomyelinating, 28, MIM# 620978

14 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jul 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAL was added gene: MAL was added to Leukodystrophy - paediatric. 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 Leukodystrophy MONDO:0019046, MAL-related Review for gene: MAL was set to AMBER