TSEN54

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

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green TSEN54 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2A, MIM# 277470 Pontocerebellar hypoplasia type 4, MIM# 225753
Green TSEN54 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.92	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 1.405	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia type 2, MIM#277470
Green TSEN54 in Mendeliome Version 1.3795	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 1.376	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 1.309 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 0.578	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TSEN54 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.600	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 1.507	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes pontocerebellar hypoplasia type 2A MONDO:0010190
Red TSEN54 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.160 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Expert list 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 1.32 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 0.111	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 1.482	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 2.15	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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	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 2.0	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) ?Pontocerebellar hypoplasia type 5 (MIM#610204)