PCLO

piccolo presynaptic cytomatrix protein
OMIM: 604918, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber PCLO 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 Phenotypes Pontocerebellar hypoplasia, type 3, OMIM:608027 PEHO syndrome, MONDO:0009841 progressive encephalopathy with edema, hypsarrhythmia and optic atrophy Tags Q3_26_promote_green
Red PCLO in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
Red PCLO in Severe microcephaly Level 2: Neurology Version 9.26 Latest signed off version: v9.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert list Phenotypes Pontocerebellar hypoplasia, type 3, 608027
Red PCLO in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.87	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar Hypoplasia type 3
Red PCLO in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.12 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
Amber PCLO in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Pontocerebellar hypoplasia, type 3, OMIM:608027 PEHO syndrome, MONDO:0009841 progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
Amber PCLO in Early onset or syndromic epilepsy Level 2: Neurology Version 9.76 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 Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 3, OMIM:608027 PEHO syndrome, MONDO:0009841 progressive encephalopathy with edema, hypsarrhythmia and optic atrophy Tags Q3_26_promote_green
Red PCLO in Intellectual disability Level 2: Developmental disorders Version 11.28 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 Victorian Clinical Genetics Services Literature Phenotypes Pontocerebellar hypoplasia, type 3, OMIM:608027 PEHO syndrome, MONDO:0009841 progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
Red PCLO in Hereditary ataxia, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. Pontocerebellar hypoplasia type 3, 608027