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Fetal anomalies

Gene: MMACHC

Green List (high evidence)

MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria)
EnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 20 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMACHC gene rating from Green to Red. Additional notes from clinical review: Hydrocephalus is probably secondary phenotype.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE
Created: 11 Dec 2018, 9:05 a.m.

Publications

History Filter Activity

25 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to MMACHC. Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to MMACHC. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MMACHC was added gene: MMACHC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE