PanelApp (test)
  1. Genes and Genomic Entities
  2. MMACHC

MMACHC

metabolism of cobalamin associated C
OMIM: 609831, ClinGen, DECIPHER

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Amber MMACHC in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400

Green MMACHC in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
  • Disorders of cobalamin absorption, transport and metabolism
Tags
  • treatable

Green MMACHC in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400

Green MMACHC in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Tags
  • treatable

Red MMACHC in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400

Green MMACHC in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MMACHC in Atypical Haemolytic Uraemic Syndrome_MPGN


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Tags
  • treatable

Green MMACHC in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Tags
  • treatable

Green MMACHC in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria cblC type, 277400
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
  • Ataxia and hypogonadism
Tags
  • treatable

Green MMACHC in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Tags
  • treatable

Green MMACHC in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)

Green MMACHC in Stroke


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Tags
  • treatable

Amber MMACHC in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • MetBioNet
  • Expert Review Amber
  • South West GLH
  • NHS GMS
Phenotypes
  • Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
  • Methylmalonic aciduria
  • DCM
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
  • Hypertrophic-hypocontractile cardiomyopathy

Green MMACHC in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type

Green MMACHC in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400)

Green MMACHC in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400

Green MMACHC in Aminoacidopathy


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • methylmalonic aciduria and homocystinuria type cblC MONDO:0010184

Green MMACHC in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Tags
  • treatable
  • metabolic

Green MMACHC in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400

Green MMACHC in Vitamin metabolism disorders


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
  • Disorders of cobalamin absorption, transport and metabolism
Tags
  • treatable