Cerebellar hypoplasia
Gene: TSEN54Comment on list classification: Gene added by reviewer, and found in 3/4 sources.Created: 19 May 2016, 8:53 a.m.
Publications for gene: TSEN54 were set to 18711368; 20956791; 20952379; 20301773
Publications for gene: TSEN54 were set to PMID: 21368912; PMID: 18711368; PMID: 20956791; PMID: 20952379;
Phenotypes for gene: TSEN54 were changed from Pontocerebellar Hypoplasia type 5; Pontocerebellar Hypoplasia type 2A; Pontocerebellar Hypoplasia type 4; Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753 to ?Pontocerebellar hypoplasia type 5, OMIM:610204; Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753
22/02/2017: Panel revised after internal clinical review and further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This proposed gene was validated and added to this panel
TSEN54 was added to Cerebellar hypoplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services
TSEN54 was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen
TSEN54 was added to Cerebellar hypoplasiapanel. Source: UKGTN
TSEN54 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other
TSEN54 was created by helen.savage