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
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
Methylmalonic aciduria and homocystinuria, cblC type
Source NHS GMS was added to MMACHC.
31.05.2017 - panel revised after internal curation and clinical review.
MMACHC was added to Hydrocephaluspanel. Source: Expert Review Red
MMACHC was created by helen.brittain
MMACHC was added to Hydrocephaluspanel. Sources: Literature