Severe microcephaly
Gene: TSEN54EnsemblGeneIds (GRCh38): ENSG00000182173
EnsemblGeneIds (GRCh37): ENSG00000182173
OMIM: 608755, Gene2Phenotype
TSEN54 is in 14 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The 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
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pontocerebellar hypoplasia type 2A, OMIM:277470
- Pontocerebellar hypoplasia type 4, OMIM:225753
- OMIM
- 608755
- Clinvar variants
- Variants in TSEN54
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Cerebellar hypoplasia
- Arthrogryposis
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary ataxia with onset in adulthood
- Acute rhabdomyolysis
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: TSEN54.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to TSEN54. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating tag was added to gene: TSEN54.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tsen54 has been classified as Amber List (Moderate Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TSEN54 were set to 20952379; 20301773
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
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