TSEN54

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

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green TSEN54 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green 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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green 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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes Pontocerebellar hypoplasia type 2, MIM#277470
Green TSEN54 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert list Expert list Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2A, MIM# 277470
Green TSEN54 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green TSEN54 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Red TSEN54 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Expert list Phenotypes adult-onset cerebellar ataxia
Green TSEN54 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2A, 277470 (3)
Green TSEN54 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Pontocerebellar hypoplasia type 4
Green TSEN54 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2A (MIM#277470) Pontocerebellar hypoplasia type 4 (MIM#225753)
Green TSEN54 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2A (MIM#277470) Pontocerebellar hypoplasia type 4 (MIM#225753) ?Pontocerebellar hypoplasia type 5 (MIM#610204)