PGBD5

piggyBac transposable element derived 5
OMIM: 616791, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber PGBD5 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.32 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, OMIM:621482 neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MONDO:0980968 Tags Q2_26_promote_green
Amber PGBD5 in Hereditary spastic paraplegia, childhood onset Level 2: Neurology Version 9.11 Latest signed off version: v9.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, OMIM:621482 neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MONDO:0980968 Tags Q2_26_promote_green
Amber PGBD5 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.73 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, OMIM:621482 neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MONDO:0980968 Tags Q2_26_promote_green Q2_26_NHS_review
Amber PGBD5 in Intellectual disability Level 2: Developmental disorders Version 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, OMIM:621482 neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MONDO:0980968 Tags Q2_26_promote_green Q2_26_NHS_review