Arthrogryposis
Gene: TNNT1
Comment when marking as ready: Initially identified in Amish population but now reported in other unrelated familiesCreated: 22 Dec 2016, 10:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 5, Amish type 605355
Publications
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.
This gene has been classified as Green List (High Evidence).
Publications for TNNT1 were set to 26296490; 10952871 ;27429059
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
TNNT1 was added to Arthrogryposispanel. Sources: Expert list
TNNT1 was created by ellenmcdonagh