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Prepair 1000+

Gene: TNNT1

Green List (high evidence)

TNNT1 (troponin T1, slow skeletal type)
EnsemblGeneIds (GRCh38): ENSG00000105048
EnsemblGeneIds (GRCh37): ENSG00000105048
OMIM: 191041, Gene2Phenotype
TNNT1 is in 9 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Autosomal recessive severe infantile nemaline myopathy-5A (NEM5A) is a skeletal muscle disorder characterized by symptom onset soon after birth or in early infancy. Affected infants show axial hypotonia, stiffness, rigid spine with progressive kyphosis, pectus deformities, and contractures or limited movement of the large joints. Some patients show transient tremors. There is muscle atrophy and poor gross motor development. Respiratory insufficiency develops in the first years of life, often leading to death.

Autosomal recessive childhood-onset nemaline myopathy-5B (NEM5B) is a skeletal muscle disorder in which patients usually present with proximal muscle weakness of the lower and upper limbs in a limb-girdle distribution, resulting in gait abnormalities; however, most remain ambulatory even into late adulthood. Some affected individuals show delayed motor development. There is axial weakness and atrophy of the paraspinal muscles, along with kyphosis, scoliosis, and rigid spine, as well as variable limitations of the large joints. Most patients develop restrictive respiratory insufficiency with decreased forced vital capacity; some need noninvasive ventilation


HGNC approved symbol/name: TNNT1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: AD phenotype (Nemaline myopathy 5C, autosomal dominant, MIM# 620389)
Created: 13 Mar 2025, 1:32 a.m. | Last Modified: 13 Mar 2025, 1:32 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355; Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355
  • Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386
OMIM
191041
Clinvar variants
Variants in TNNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: tnnt1 has been classified as Green List (High Evidence).

13 Mar 2025, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: TNNT1 were changed from Nemaline myopathy 5, Amish type, 605355 (3) to Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355; Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386

13 Mar 2025, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: TNNT1 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNNT1 was added gene: TNNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type, 605355 (3)