Arthrogryposis
Gene: TPM3
Congenital contractures may be presentCreated: 22 Dec 2016, 10:52 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, with fiber-type disproportion 255310
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).
Phenotypes for TPM3 were set to ; nemaline myopathy; Nemaline Myopathy; Nemaline myopathy 1, autosomal dominant or recessive, 609284;Myopathy, congenital, with fiber-type disproportion 255310
Publications for TPM3 were set to 18300303
Mode of inheritance for TPM3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
TPM3 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory TPM3 was added to Arthrogryposispanel. Source: UKGTN TPM3 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services TPM3 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen TPM3 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene TPM3 was set to BIALLELIC, autosomal or pseudoautosomal
TPM3 was added to Arthrogryposispanel. Sources: Expert list
TPM3 was created by ellenmcdonagh