1. Panels
  2. Arthrogryposis
  3. TNNI2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: TNNI2

Green List (high evidence)
TNNI2 (troponin I2, fast skeletal type)
EnsemblGeneIds (GRCh38): ENSG00000130598
EnsemblGeneIds (GRCh37): ENSG00000130598
OMIM: 191043, Gene2Phenotype
TNNI2 is in 3 panels

2 reviews

julien thevenon (CHU de Dijon)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 3 May 2016, 9:28 a.m.
Comment on list classification: Green expert review, found in 3 of the 4 original sources, and >3 unrelated family reports in OMIM.
Created: 3 May 2016, 9:28 a.m.
Created: 3 May 2016, 9:28 a.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • UKGTN
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 2B, 601680
  • Arthrogryposis Multiplex Congenita
  • Distal Arthrogryposis Multiplex Congenita
  • Arthrogryposis, Distal, Type 2B
OMIM
191043
Clinvar variants
Variants in TNNI2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

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.

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNI2 was added to Arthrogryposispanel. Source: UKGTN TNNI2 was added to Arthrogryposispanel. Source: Expert

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNI2 was added to Arthrogryposispanel. Source: Expert list

3 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TNNI2 were set to PMID: 16802141; 17380469; 23850728

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TNNI2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jul 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

TNNI2 was added to Arthrogryposispanel. Sources: Emory Genetics Laboratory

28 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene TNNI2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene TNNI2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

TNNI2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

TNNI2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen