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| Malformations of cortical development v3.11 | PIDD1 | Arina Puzriakova Tag Q3_21_rating was removed from gene: PIDD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | PIDD1 | Arina Puzriakova commented on gene: PIDD1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | PIDD1 |
Arina Puzriakova 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) |
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| Malformations of cortical development v2.67 | PIDD1 | Arina Puzriakova Classified gene: PIDD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.67 | PIDD1 | Arina Puzriakova Gene: pidd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.66 | PIDD1 |
Arina Puzriakova 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 Added comment: 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 |
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