PanelApp (staging)
  1. Genes and Genomic Entities
  2. TSEN54

TSEN54

tRNA splicing endonuclease subunit 54
OMIM: 608755, ClinGen, DECIPHER

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green TSEN54 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green TSEN54 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.78

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 2A, MIM# 277470
  • Pontocerebellar hypoplasia type 4, MIM# 225753

Red TSEN54 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia type 2, MIM#277470

Green TSEN54 in Mendeliome


Version 1.2302

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 2A 277470
  • Pontocerebellar hypoplasia type 4 225753
  • Ataxia

Green TSEN54 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.295

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 2A (MIM#277470) and type 4 (MIM#225753)

Green TSEN54 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pontocerebellar hypoplasia type 2A, MIM# 277470

    Green TSEN54 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TSEN54 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TSEN54 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • pontocerebellar hypoplasia type 2A MONDO:0010190

    Red TSEN54 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Red
    • Expert list
    Phenotypes
    • adult-onset cerebellar ataxia

    Red TSEN54 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • ?Pontocerebellar hypoplasia type 5 610204
    • Pontocerebellar hypoplasia type 4 225753
    • Pontocerebellar hypoplasia type 2A 277470

    Green TSEN54 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pontocerebellar hypoplasia type 2A, 277470 (3)

    Green TSEN54 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Pontocerebellar hypoplasia type 4

    Green TSEN54 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Pontocerebellar hypoplasia type 5, OMIM:610204
    • Pontocerebellar hypoplasia type 4, OMIM:225753
    • Pontocerebellar hypoplasia type 2A, OMIM:277470

    Green TSEN54 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pontocerebellar hypoplasia type 2A (MIM#277470)
    • Pontocerebellar hypoplasia type 4 (MIM#225753)

    Red TSEN54 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Pontocerebellar hypoplasia type 2A MIM#277470

    Green TSEN54 in Prepair 500+


    Level 2: Screening
    Version 1.5

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pontocerebellar hypoplasia type 2A, 277470 (3)