Structural eye disease
Gene: PACS1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 3:59 p.m. | Last Modified: 30 Jan 2023, 3:59 p.m.
Panel Version: 2.3
Gana et al. 2021 WITHDRAWN. Pefkianaki et al. 2018 describe an individual withde novo p.Arg203Trp variant, SH syndrome with coloboma. Schuurs-Hoeijmakers et al. 2016 describes 15 patients with same dn variant, two of which have coloboma. Abdulqader et al. 2021 same dn variant family with coloboma, Silva et al. 2021 same variant, one family with coloboma. Tenorio-Castano et al. 5/7 cases with de novo recurrent variant have coloboma, 3/7 microphthalmia. gnomAD: variant is absent.Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Schuurs-Hoeijmakers syndrome, 615009
Publications
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.Created: 18 May 2022, 2 p.m. | Last Modified: 18 May 2022, 2 p.m.
Panel Version: 1.126
Sources: Expert listCreated: 20 Jan 2022, 11:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Schuurs-Hoeijmakers syndrome, OMIM:615009
Publications
Tag Q2_22_rating was removed from gene: PACS1. Tag Q2_22_NHS_review was removed from gene: PACS1.
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)
Gene: pacs1 has been classified as Amber List (Moderate Evidence).
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.
Tag Q2_21_rating tag was added to gene: PACS1.
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