Congenital myopathy

Gene: TNNT1

Green List (high evidence)

TNNT1 (troponin T1, slow skeletal type)
EnsemblGeneIds (GRCh38): ENSG00000105048
EnsemblGeneIds (GRCh37): ENSG00000105048
OMIM: 191041, Gene2Phenotype
TNNT1 is in 5 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

PMID: 32994279 - Three additional unrelated cases with nemaline myopathy due to different biallelic variants in TNNT1. The variants comprised a homozygous deletion of exons 8 and 9; two compound het nonsense and splice-site variants; and a homozygous nonsense variant. Western blot analysis revealed the total absence of the troponin protein in all three cases.
Created: 5 Oct 2020, 9:33 a.m. | Last Modified: 5 Oct 2020, 9:33 a.m.
Panel Version: 2.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 5, Amish type, 605355; Nemaline Myopathy

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
nemaline myopathy; Nemaline Myopathy, Recessive; Nemaline myopathy 5, Amish type, 605355

Publications

Variants in this GENE are reported as part of current diagnostic practice

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
nemaline myopathy; Nemaline Myopathy, Recessive; Nemaline myopathy 5, Amish type, 605355

Publications

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: several families in 3 populations.
Created: 2 Feb 2017, 12:03 p.m.
Initially described in Amish population only, with founder effect. Recently described in 7 Palestinian families (single mutation) and Hispanic individual. In view of the number of families and an appropriate phenotype, considered green. However, founder mutations make up the majority of reported cases to date.
Created: 26 Jan 2017, 11:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 5, Amish type 605355

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
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

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TNNT1.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to TNNT1. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

2 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for TNNT1 were set to 26296490; 25430424

13 May 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

TNNT1 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

TNNT1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

TNNT1 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

TNNT1 was added to Congenital myopathypanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TNNT1 was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory