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Intellectual disability syndromic and non-syndromic

Gene: PDP1

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate dehydrogenase phosphatase deficiency, MIM#608782

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency, MIM#608782
OMIM
605993
Clinvar variants
Variants in PDP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdp1 has been classified as Green List (High Evidence).

8 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, MIM#608782

8 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDP1 were set to

8 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDP1 was added gene: PDP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDP1 was set to Unknown