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Intellectual disability

Gene: PDP1

Amber List (moderate evidence)
PDP1 (pyruvate dehyrogenase phosphatase catalytic subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000164951
EnsemblGeneIds (GRCh37): ENSG00000164951
OMIM: 605993, Gene2Phenotype
PDP1 is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Amber, given the mild delay in psychomotor development seen in these patients. This gene is Green on other panels which are more relevant to the phenotype.
Created: 13 Aug 2020, 11:21 a.m. | Last Modified: 13 Aug 2020, 11:21 a.m.
Panel Version: 3.247
Associated with Pyruvate dehydrogenase phosphatase deficiency in OMIM, but not in G2P.

PMID: 15855260 (2005) - Homozygous three bp deletion identified in two brothers with pyruvate dehydrogenase phosphatase deficiency. Supporting in vitro data showing impaired protein function. They both presented neonatally with hypotonia, feeding difficulties, and elevated lactate. At 12 and 10 years old, respectively, the brothers were said to have slightly delayed psychomotor development.

PMID: 19184109 (2009) - In a female infant with lactic acidosis due to pyruvate dehydrogenase phosphatase deficiency, a homozygous (c.277G>T, p.E93X) nonsense variant was identified. Functional studies revealed partially reduced native PDHC activity and complete absence of PDP1 protein on Western blot. The patient had been showing signs of appropriate developmental progression including starting to sit, responding to her name and speaking some words; however, she subsequently developed acute respiratory distress and died at 6 months.

PMID: 31392110 (2019) - Biallelic frameshift variant (c.575dupT, p.L192FfsX5) identified in a patient with lactic acidosis associated with pyruvate dehydrogenase complex deficiency. Although he exhibited speech delay early in development, marked improvement of overall development followed initiation of ketogenic diet at 31 months of age. By 7 years of age he spoke fluent English and Spanish, and attended class for children with special needs.
Created: 13 Aug 2020, 11:16 a.m. | Last Modified: 13 Aug 2020, 11:16 a.m.
Panel Version: 3.246

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate dehydrogenase phosphatase deficiency, 608782

Publications

Created: 13 Aug 2020, 11:16 a.m.
Last Modified: 13 Aug 2020, 11:16 a.m.
Panel version: 3.246

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

Created: 10 Feb 2020, 3 a.m.

Panel version: 3.0

History Filter Activity

13 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pdp1 has been classified as Amber List (Moderate Evidence).

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