PanelApp
  1. Genes and Genomic Entities
  2. MMAA

MMAA

methylmalonic aciduria (cobalamin deficiency) cblA type
OMIM: 607481, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green MMAA in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100
Tags
  • treatable

Green MMAA in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.594

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

Green MMAA in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100
Tags
  • treatable

Green MMAA in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.110

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)

Green MMAA in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive

Green MMAA in Hyperammonaemia


Level 2: Metabolic disorders
Version 0.10

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Methylmalonic aciduria, vitamin B12-responsive 251100
    Tags
    • treatable

    Green MMAA in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Methylmalonic aciduria, vitamin B12-responsive, MIM#251100

    Green MMAA in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • methylmalonic aciduria, cblA type MONDO:0009613
    Tags
    • treatable

    Green MMAA in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Methylmalonic aciduria, vitamin B12-responsive, MIM#251100
    Tags
    • treatable
    • metabolic

    Green MMAA in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Methylmalonic aciduria, vitamin B12-responsive, MIM#251100

    Green MMAA in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Disorders of cobalamin metabolism
    • methylmalonic aciduria, cblA type MONDO:0009613