PDP1

pyruvate dehyrogenase phosphatase catalytic subunit 1
OMIM: 605993, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green PDP1 in Pyruvate dehydrogenase (PDH) deficiency Version 1.36 Latest signed off version: v1.2 (17 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY OMIM:608782 pyruvate dehydrogenase phosphatase deficiency MONDO:0012120
Green PDP1 in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.39	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782
Green PDP1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Pyruvate dehydrogenase phosphatase deficiency, 608782
Green PDP1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 Green Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Green PDP1 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782
Amber PDP1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Pyruvate dehydrogenase phosphatase deficiency, MIM#608782
Green PDP1 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782
Red PDP1 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782
Red PDP1 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782
Green PDP1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782