Hydrocephalus
Gene: MMACHC
MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria)
EnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000132763
EnsemblGeneIds (GRCh37): ENSG00000132763
OMIM: 609831, Gene2Phenotype
MMACHC is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 RedCreated: 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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Literature
- Phenotypes
-
- Methylmalonic aciduria and homocystinuria, cblC type
- OMIM
- 609831
- Clinvar variants
- Variants in MMACHC
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Retinal disorders
- DDG2P
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hydrocephalus
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Atypical haemolytic uraemic syndrome
- Paediatric or syndromic cardiomyopathy
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
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