Hydrocephalus

Gene: MMACHC

Red List (low evidence)

MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria)
EnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 16 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Only 2 reported cases with hydrocephalus out of many. Otherwise microcephaly is a feature in addition to many other milti-system reasons for presentation elsewhere. This coupled with the fact there is an adolescent-adult onset version make this gene unsuitable for a hydrocephalus panel.
Created: 9 May 2017, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria and homocystinuria, cblC type

History Filter Activity

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MMACHC.

31 May 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

9 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MMACHC was added to Hydrocephaluspanel. Source: Expert Review Red

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

MMACHC was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

MMACHC was added to Hydrocephaluspanel. Sources: Literature