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Severe microcephaly

Gene: TSEN54

Amber List (moderate evidence)

TSEN54 (tRNA splicing endonuclease subunit 54)
EnsemblGeneIds (GRCh38): ENSG00000182173
EnsemblGeneIds (GRCh37): ENSG00000182173
OMIM: 608755, Gene2Phenotype
TSEN54 is in 15 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Microcephaly is a common feature of TSEN54 pontocerebellar hypoplasia (progressive in type 2, present at birth in type 4).
Sources: Expert list
Created: 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

History Filter Activity

19 May 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: TSEN54.

19 May 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tsen54 has been classified as Amber List (Moderate Evidence).

19 May 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TSEN54 were set to 20952379; 20301773

19 May 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

4 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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