1. Panels
  2. Muscular dystrophy and myopathy_Paediatric
  3. MAMDC2
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Muscular dystrophy and myopathy_Paediatric

Gene: MAMDC2

Amber List (moderate evidence)
MAMDC2 (MAM domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000165072
EnsemblGeneIds (GRCh37): ENSG00000165072
OMIM: 612879, Gene2Phenotype
MAMDC2 is in 3 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

I don't know

17 individuals with an autosomal dominant muscular dystrophy belonging to two unrelated families in which different heterozygous truncating variants in the last exon of MAMDC2 co-segregate correctly with the disease.
Sources: Literature
Created: 3 Aug 2023, 2:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Muscular Dystrophy MONDO:0020121, MAMDC2-related

Publications

Created: 3 Aug 2023, 2:46 a.m.

Panel version: 1.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Muscular Dystrophy MONDO:0020121, MAMDC2-related
OMIM
612879
Clinvar variants
Variants in MAMDC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mamdc2 has been classified as Amber List (Moderate Evidence).

3 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mamdc2 has been classified as Amber List (Moderate Evidence).

3 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mamdc2 has been classified as Amber List (Moderate Evidence).

3 Aug 2023, Gel status: 0

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mamdc2 has been removed from the panel.

3 Aug 2023, Gel status: 0

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

Belinda Chong (Victorian Clinical Genetics Services)

gene: MAMDC2 was added gene: MAMDC2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MAMDC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAMDC2 were set to 37503746 Phenotypes for gene: MAMDC2 were set to Muscular Dystrophy MONDO:0020121, MAMDC2-related Review for gene: MAMDC2 was set to AMBER