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Intellectual disability

Gene: PDP1

No list

PDP1 (pyruvate dehyrogenase phosphatase catalytic subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000164951
EnsemblGeneIds (GRCh37): ENSG00000164951
OMIM: 605993, Gene2Phenotype
PDP1 is in 10 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

DD/ID is part of the phenotype of this metabolic condition.
Sources: Expert list
Created: 10 Feb 2020, 3 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate dehydrogenase phosphatase deficiency, MIM#608782

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

10 Feb 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PDP1 was added gene: PDP1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDP1 were set to 19184109; 15855260; 31392110 Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency, MIM#608782 Review for gene: PDP1 was set to GREEN gene: PDP1 was marked as current diagnostic