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Malformations of cortical development

Gene: PIDD1

Green List (high evidence)
PIDD1 (p53-induced death domain protein 1)
EnsemblGeneIds (GRCh38): ENSG00000177595
EnsemblGeneIds (GRCh37): ENSG00000177595
OMIM: 605247, Gene2Phenotype
PIDD1 is in 5 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
At least 9 distinct biallelic variants have been identified in 26 individuals from 11 families. All affected individuals had DD and variable degree of ID (mild to severe) and all those that had brain imaging exhibited cortical abnormalities, particularly pachygyria/lissencephaly and corpus callosum anomalies. Seizures were recorded in 9 patients (6 families).

Overall there is are sufficient unrelated cases with relevant phenotype and biallelic variants in this gene to rate as Green on this panel.
Sources: Literature
Created: 7 Sep 2021, 1:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; Pachygyria; Lissencephaly; Seizures

Publications

Created: 7 Sep 2021, 1:59 p.m.

Panel version: 3.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Pachygyria
  • Lissencephaly
  • Seizures
OMIM
605247
Clinvar variants
Variants in PIDD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating was removed from gene: PIDD1.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to PIDD1. Source NHS GMS was added to PIDD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pidd1 has been classified as Amber List (Moderate Evidence).

7 Sep 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: PIDD1 was added gene: PIDD1 was added to Malformations of cortical development. Sources: Literature Q3_21_rating tags were added to gene: PIDD1. Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIDD1 were set to 33414379; 34163010 Phenotypes for gene: PIDD1 were set to Intellectual disability; Pachygyria; Lissencephaly; Seizures Review for gene: PIDD1 was set to GREEN