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| Skeletal ciliopathies v2.5 | CSPP1 | Eleanor Williams Tag Q4_21_rating was removed from gene: CSPP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v2.5 | CSPP1 | Eleanor Williams commented on gene: CSPP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v2.4 | CSPP1 |
Eleanor Williams Source Expert Review Green was added to CSPP1. Source NHS GMS was added to CSPP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal ciliopathies v1.14 | CSPP1 | Eleanor Williams Classified gene: CSPP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v1.14 | CSPP1 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for green rating following GMS review. 3 cases reported with a skeletal phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v1.14 | CSPP1 | Eleanor Williams Gene: cspp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v1.13 | CSPP1 | Eleanor Williams Tag Q4_21_rating tag was added to gene: CSPP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v1.13 | CSPP1 | Eleanor Williams Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, OMIM:615636; Joubert syndrome with Jeune asphyxiating thoracic dystrophy, MONDO:0018342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v1.12 | CSPP1 | Eleanor Williams Publications for gene: CSPP1 were set to 24360808 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v1.11 | CSPP1 | Eleanor Williams reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803; Phenotypes: Joubert syndrome 21, OMIM:615636, Joubert syndrome with Jeune asphyxiating thoracic dystrophy, MONDO:0018342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v1.3 | CSPP1 |
Zornitza Stark gene: CSPP1 was added gene: CSPP1 was added to Skeletal ciliopathies. Sources: Expert list Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSPP1 were set to 24360808 Phenotypes for gene: CSPP1 were set to Joubert syndrome 21, MIM# 615636 Review for gene: CSPP1 was set to GREEN gene: CSPP1 was marked as current diagnostic Added comment: Classically associated with Joubert syndrome; however, note 4 individuals reported with features consistent with Jeune asphyxiating thoracic dystrophy, including short ribs, bell-shaped chest, and pulmonary hypoplasia. Sources: Expert list |
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