PSPH

phosphoserine phosphatase
OMIM: 172480, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green PSPH in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Phosphoserine phosphatase deficiency MIM#614023 Disorders of serine, glycine or glycerate metabolism
Amber PSPH in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Phosphoserine phosphatase deficiency, MIM#614023
Green PSPH in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green PSPH in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Illumina TruGenome Clinical Sequencing Services Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Phenotypes Phosphoserine phosphatase deficiency 614023
Green PSPH in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Phosphoserine phosphatase deficiency, 614023 (3)
Green PSPH in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Phosphoserine phosphatase deficiency MIM#614023 Disorders of serine, glycine or glycerate metabolism
Green PSPH in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Phosphoserine phosphatase deficiency , MIM#614023 Neu-Luxova syndrome
Green PSPH in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Phosphoserine phosphatase deficiency, 614023 (3)
Green PSPH in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes neurometabolic disorder due to serine deficiency MONDO:0018162
Amber PSPH in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BeginNGS Phenotypes Phosphoserine phosphatase deficiency, MIM# 614023 Tags for review