1. Panels
  2. GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
  3. MMADHC
STRs in panel
Prev Next
Regions in panel
Prev Next

GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: MMADHC

Red List (low evidence)
MMADHC (methylmalonic aciduria and homocystinuria, cblD type)
EnsemblGeneIds (GRCh38): ENSG00000168288
EnsemblGeneIds (GRCh37): ENSG00000168288
OMIM: 611935, Gene2Phenotype
MMADHC is in 10 panels

1 review

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Dystonia is not a predominant feature of syndromes; unable to find reference to dystonia associated with the gene outside of these syndromes.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Methylmalonic aciduria, cblD type, variant 2
  • Homocystinuria, cblD type, variant 1
  • Methylmalonic aciduria and homocystinuria, cblD type, 277410
OMIM
611935
Clinvar variants
Variants in MMADHC
Penetrance
None
Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene MMADHC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Methylmalonic aciduria, cblD type, variant 2; Homocystinuria, cblD type, variant 1; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to MMADHC.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MMADHC was added gene: MMADHC was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: MMADHC was set to