Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Structural eye disease v2.3 | PACS1 |
Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: PACS1. Tag Q2_22_NHS_review was removed from gene: PACS1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v2.3 | PACS1 | Achchuthan Shanmugasundram reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v2.2 | PACS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1. Source NHS GMS was added to PACS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.126 | PACS1 | Ivone Leong Classified gene: PACS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.126 | PACS1 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.126 | PACS1 | Ivone Leong Gene: pacs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.125 | PACS1 |
Ivone Leong Tag Q2_21_rating was removed from gene: PACS1. Tag Q1_22_NHS_review was removed from gene: PACS1. Tag Q2_22_rating tag was added to gene: PACS1. Tag Q2_22_NHS_review tag was added to gene: PACS1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.125 | PACS1 | Ivone Leong Tag Q2_21_rating tag was added to gene: PACS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.101 | PACS1 | Nicola Ragge reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34468556, 34068396, 34631081, 29550517, 26842493; Phenotypes: Schuurs-Hoeijmakers syndrome, 615009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.96 | PACS1 |
Ivone Leong gene: PACS1 was added gene: PACS1 was added to Structural eye disease. Sources: Expert list Q1_22_NHS_review tags were added to gene: PACS1. Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PACS1 were set to 29550517; 26842493; 34631081; 34468556; 34068396 Phenotypes for gene: PACS1 were set to Schuurs-Hoeijmakers syndrome, OMIM:615009 Review for gene: PACS1 was set to AMBER Added comment: Sources: Expert list |