PSPH

phosphoserine phosphatase
OMIM: 172480, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green PSPH in Skeletal dysplasia Level 2: Musculoskeletal Version 9.13 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Phosphoserine phosphatase deficiency 614023
Amber PSPH in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Phosphoserine phosphatase deficiency 614023
Amber PSPH in Likely inborn error of metabolism Level 2: Metabolic Version 9.7 Latest signed off version: v9.0 (6 May 2026) 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 London North GLH NHS GMS Expert Review Amber Phenotypes Phosphoserine phosphatase deficiency 614023
Green PSPH in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.11 Latest signed off version: v7.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes PHOSPHOSERINE PHOSPHATASE DEFICIENCY NEU-LAXOVA
Green PSPH in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PHOSPHOSERINE PHOSPHATASE DEFICIENCY 614023 NEU-LAXOVA 256520
Amber PSPH in Early onset or syndromic epilepsy Level 2: Neurology Version 9.8 Latest signed off version: v9.0 (6 May 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 Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Phosphoserine phosphatase deficiency 614023 Tags watchlist
Green PSPH in Intellectual disability Level 2: Developmental disorders Version 10.18 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes PHOSPHOSERINE PHOSPHATASE DEFICIENCY
Red PSPH in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 8.3 Latest signed off version: v8.0 (6 May 2026)	review	Not set	Sources Expert Review Red London North GLH