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Arthrogryposis

Gene: MATR3

Red List (low evidence)

MATR3 (matrin 3)
EnsemblGeneIds (GRCh38): ENSG00000015479
EnsemblGeneIds (GRCh37): ENSG00000015479
OMIM: 164015, Gene2Phenotype
MATR3 is in 6 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

No association with arthrogryposis
Created: 4 Jan 2017, 1:18 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 21 606070

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis 21 606070
OMIM
164015
Clinvar variants
Variants in MATR3
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for MATR3 were set to Amyotrophic lateral sclerosis 21 606070

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MATR3 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services MATR3 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene MATR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MATR3 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MATR3 was created by ellenmcdonagh