Severe microcephaly
Gene: TSEN54The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Comment on list classification: New gene added by Zornitza Stark. Progressive microcephaly is a feature associated with PCH types 2 and 4. Sufficient number of unrelated cases (>3) to rate this gene as Green at the next GMS panel review.Created: 19 May 2021, 10:09 a.m. | Last Modified: 19 May 2021, 10:09 a.m.
Panel Version: 2.163
Microcephaly is a common feature of TSEN54 pontocerebellar hypoplasia (progressive in type 2, present at birth in type 4).
Sources: Expert listCreated: 4 Sep 2020, 10:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2A (MIM#277470) and type 4 (MIM#225753)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: TSEN54.
Source Expert Review Green was added to TSEN54. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: TSEN54.
Gene: tsen54 has been classified as Amber List (Moderate Evidence).
Publications for gene: TSEN54 were set to 20952379; 20301773
Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 2A (MIM#277470) and type 4 (MIM#225753) to Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753
gene: TSEN54 was added gene: TSEN54 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN54 were set to 20952379; 20301773 Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2A (MIM#277470) and type 4 (MIM#225753) Review for gene: TSEN54 was set to GREEN gene: TSEN54 was marked as current diagnostic