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BabyScreen+ newborn screening

Gene: MTRR

Green List (high evidence)
MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
EnsemblGeneIds (GRCh38): ENSG00000124275
EnsemblGeneIds (GRCh37): ENSG00000124275
OMIM: 602568, Gene2Phenotype
MTRR is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270

Created: 6 Oct 2022, 12:53 a.m.
Last Modified: 6 Oct 2022, 12:53 a.m.
Panel version: 0.382

David Amor (Murdoch Children's Research Institute)

Green List (high evidence)

Gene-disease association: strong. Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase. Clinical features are somewhat variable, but include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation.

Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: yes, serum amino acids, urine organic acids

Treatment: hydroxocobalamin, folic acid, betaine
Created: 4 Oct 2022, 5:12 a.m. | Last Modified: 4 Oct 2022, 5:12 a.m.
Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria-megaloblastic anemia, cbl E type

Publications

Created: 4 Oct 2022, 5:12 a.m.
Last Modified: 4 Oct 2022, 5:12 a.m.
Panel version: 0.274

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, MIM#236270
Tags
treatable metabolic
OMIM
602568
Clinvar variants
Variants in MTRR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: MTRR. Tag metabolic tag was added to gene: MTRR.

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtrr has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTRR were set to

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTRR was added gene: MTRR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTRR were set to Methylmalonic aciduria and homocystinuria, MIM#236270