Arthrogryposis
Gene: TPM2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Comment on mode of inheritance: Escobar syndrome is biallelic PMID: 19155175.Created: 3 May 2016, 9:34 a.m.
Comment on list classification: Two green expert reviews, and is a probable DD gene for arthrogryposis, distal type 1.Created: 3 May 2016, 9:29 a.m.
deletions/insertions/ missense mutations
homozygous null mutations reported in Escobar syndromeCreated: 19 Oct 2015, 9:18 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
distal arthrogryposis; Escobar syndrome; congenital myopathy
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.
TPM2 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory TPM2 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TPM2 was added to Arthrogryposispanel. Source: Expert list
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TPM2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for TPM2 were set to Arthrogryposis multiplex congenita, distal, type 1, 108120; Arthrogryposis, distal, type 2B, 601680; Nemaline myopathy 4, autosomal dominant, 609285; CAP myopathy 2, 609285; Arthrogryposis Multiplex Congenita; Arthrogryposis, Distal, Type 1A; DA1A; Arthrogryposis, Distal, Type 2B; DA2B; distal arthrogryposis; Escobar syndrome; congenital myopathy
Publications for TPM2 were set to PMID: 19155175; 22749895; 17846275; 23413262
This gene has been classified as Green List (High Evidence).
TPM2 was added to Arthrogryposispanel. Sources: UKGTN
Model of inheritance for gene TPM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TPM2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services
TPM2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen