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Red cell disorders

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Clinical features are variable, but include delayed development, hypotonia, megaloblastic anaemia, homocystinuria, and hypomethioninaemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present.

Well established gene-disease association.
Created: 10 Sep 2021, 8:01 a.m. | Last Modified: 10 Sep 2021, 8:01 a.m.
Panel Version: 0.98

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 10 Sep 2021, 8:01 a.m.
Last Modified: 10 Sep 2021, 8:01 a.m.
Panel version: 0.98

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270
OMIM
602568
Clinvar variants
Variants in MTRR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Sep 2021, 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).

10 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MTRR were changed from Homocystinuria-megaloblastic anemia, cbl E type, 236270; 236270 Homocystinuria-megaloblastic anemia, cbl E type to Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270; 236270 Homocystinuria-megaloblastic anemia, cbl E type for gene: MTRR Publications for gene MTRR were updated from 15714522; 12555939 to 12555939; 15714522

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTRR was added gene: MTRR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTRR were set to 15714522; 12555939 Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270; 236270 Homocystinuria-megaloblastic anemia, cbl E type