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  3. TNNT1
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Arthrogryposis

Gene: TNNT1

Green List (high evidence)
TNNT1 (troponin T1, slow skeletal type)
EnsemblGeneIds (GRCh38): ENSG00000105048
EnsemblGeneIds (GRCh37): ENSG00000105048
OMIM: 191041, Gene2Phenotype
TNNT1 is in 3 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Initially identified in Amish population but now reported in other unrelated families
Created: 22 Dec 2016, 10:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 5, Amish type 605355

Publications

Created: 22 Dec 2016, 10:40 a.m.

Panel version: 1.49

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Expert
  • Expert list
Phenotypes
  • nemaline myopathy
  • Nemaline Myopathy, Recessive
  • Nemaline myopathy 5, Amish type, 605355
OMIM
191041
Clinvar variants
Variants in TNNT1
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.

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

22 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for TNNT1 were set to 26296490; 10952871 ;27429059

21 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

TNNT1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory TNNT1 was added to Arthrogryposispanel. Source: UKGTN TNNT1 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services TNNT1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen TNNT1 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNT1 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TNNT1 was created by ellenmcdonagh