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Newborns main panel

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 10 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple phenotypes with same MOI included.

Additional Information: Gene is associated with three phenotypes; isolated methylmalonic aciduria, isolated homocystinuria, combined methylmalonic aciduria and homocystinuria. See PMID: 22156578 for information on genotype phenotype correlation. Biochemical testing after return of results will confirm the phenotype.
Created: 26 Sep 2024, 3:50 p.m. | Last Modified: 19 Nov 2025, 11:55 a.m.
Panel Version: 0.480
Created: 26 Sep 2024, 3:50 p.m.
Last Modified: 19 Nov 2025, 11:55 a.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
MMADHC curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
LOF variants in N-terminal region (exons 3, 4) cause isolated methylmalonic aciduria. Otherwise, Methylmalonic aciduria and homocystinuria, cblD type. Both conditions included in newborns.
Created: 10 Mar 2023, 11:03 a.m. | Last Modified: 10 Mar 2023, 11:03 a.m.
Panel Version: 0.41
Created: 10 Mar 2023, 11:03 a.m.
Last Modified: 10 Mar 2023, 11:03 a.m.
Panel version: 0.137

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: MMADHC.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: MMADHC were changed from Methylmalonic aciduria and homocystinuria, cblD type; Methylmalonic aciduria, cblD type, variant 2 to Methylmalonic aciduria and homocystinuria, cblD type

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Methylmalonic aciduria, cblD type, variant 2 for gene: MMADHC

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Methylmalonic aciduria and homocystinuria, cblD type for gene: MMADHC

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: MMADHC were changed from Methylmalonic aciduria, cblD type, variant 2; Methylmalonic aciduria and homocystinuria, cblD type to Methylmalonic aciduria and homocystinuria, cblD type

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Methylmalonic aciduria and homocystinuria, cblD type for gene: MMADHC

15 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: MMADHC were changed from Methylmalonic aciduria, cblD type, variant 2; Methylmalonic aciduria and homocystinuria, cblD type to Methylmalonic aciduria, cblD type, variant 2; Methylmalonic aciduria and homocystinuria, cblD type

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Methylmalonic aciduria and homocystinuria, cblD type for gene: MMADHC

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MMADHC. Added phenotypes Methylmalonic aciduria, cblD type, variant 2 for gene: MMADHC Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: MMADHC was added gene: MMADHC was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to Methylmalonic aciduria, cblD type, variant 2; Methylmalonic aciduria and homocystinuria, cblD type