Arthrogryposis
Gene: TSEN54
Comment on list classification: GeneReviews states as many as 50% have arthrogryposisCreated: 22 Dec 2016, 2:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 4 225753
Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 4 225753 to Pontocerebellar hypoplasia type 4, OMIM:225753
Publications for gene: TSEN54 were set to
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.
TSEN54 was added to Arthrogryposispanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for TSEN54 were set to Pontocerebellar hypoplasia type 4 225753
TSEN54 was created by ellenmcdonagh
TSEN54 was added to Arthrogryposispanel. Sources: Expert list