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Prepair 1000+

Gene: MMADHC

Green List (high evidence)

MMADHC (methylmalonic aciduria and homocystinuria, cblD type)
EnsemblGeneIds (GRCh38): ENSG00000168288
EnsemblGeneIds (GRCh37): ENSG00000168288
OMIM: 611935, Gene2Phenotype
MMADHC is in 12 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Well established gene-disease association.

Dependent upon the type and location of the variant(s) within MMADHC, patients have either methylmalonic aciduria (MMA), homocystinuria (HC), or both (combined phenotype).

Its deficiency can cause a variety of health problems like megaloblastic anemias, respiratory or gastrointestinal alterations, and neurologic dysfunctions with signs of demyelination, developmental delay, movement disorders and hypotonia

Typically presents in infancy.
Created: 29 Jul 2024, 6:59 a.m. | Last Modified: 29 Jul 2024, 6:59 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
OMIM
611935
Clinvar variants
Variants in MMADHC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: mmadhc has been classified as Green List (High Evidence).

14 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: MMADHC were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) for gene: MMADHC

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MMADHC was added gene: MMADHC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)