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Severe Paediatric Disorders

Gene: MATR3

Green List (high evidence)

MATR3 (matrin 3)
EnsemblGeneIds (GRCh38): ENSG00000015479
EnsemblGeneIds (GRCh37): ENSG00000015479
OMIM: 164015, Gene2Phenotype
MATR3 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MATR3; Recommended initial gene rating: Green List (high evidence); Phenotypes: Amyotrophic lateral sclerosis 21, 606070 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis 21, 606070
OMIM
164015
Clinvar variants
Variants in MATR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene MATR3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown