PCYT2

phosphate cytidylyltransferase 2, ethanolamine
OMIM: 602679, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green PCYT2 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex hereditary spastic paraplegia Spastic paraplegia 82, autosomal recessive, 618770
Green PCYT2 in Childhood onset hereditary spastic paraplegia Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 82, autosomal recessive, 618770
Green PCYT2 in Adult onset hereditary spastic paraplegia Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 82, autosomal recessive, 618770
Red PCYT2 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Global developmental delay Developmental regression Intellectual disability Spastic paraparesis Seizures Spastic tetraparesis Cerebral atrophy Cerebellar atrophy
Green PCYT2 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033
Green PCYT2 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.10 Latest signed off version: v5.0 (1 May 2024) 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 Green Literature Phenotypes Global developmental delay Developmental regression Intellectual disability Spastic paraparesis Seizures Cerebral atrophy Cerebellar atrophy Spastic paraplegia 82, autosomal recessive, 618770
Green PCYT2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 82, autosomal recessive, 618770 Global developmental delay Developmental regression Intellectual disability Spastic paraparesis Seizures Spastic tetraparesis Cerebral atrophy Cerebellar atrophy
Red PCYT2 in Hereditary neuropathy or pain disorder Version 4.11 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spastic paraplegia 82, autosomal recessive, OMIM:618770 axonal neuropathy, MONDO:0004183