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| Skeletal dysplasia v2.177 | CSGALNACT1 | Eleanor Williams Tag for-review was removed from gene: CSGALNACT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.176 | CSGALNACT1 | Eleanor Williams commented on gene: CSGALNACT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.175 | CSGALNACT1 |
Eleanor Williams Source Expert Review Green was added to CSGALNACT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v2.80 | CSGALNACT1 | Michael Oldridge reviewed gene: CSGALNACT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31705726, 27599773, 31325655; Phenotypes: Skeletal dysplasia, mild, with joint laxity and advanced bone age , MIM618870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.45 | CSGALNACT1 | Eleanor Williams Tag for-review tag was added to gene: CSGALNACT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.45 | CSGALNACT1 | Eleanor Williams Classified gene: CSGALNACT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.45 | CSGALNACT1 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with recommendation for green rating following GMS review as there are now 4 cases reported of biallelic variants in this gene in patients with mild skeletal dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.45 | CSGALNACT1 | Eleanor Williams Gene: csgalnact1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.44 | CSGALNACT1 | Eleanor Williams edited their review of gene: CSGALNACT1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.44 | CSGALNACT1 | Eleanor Williams Phenotypes for gene: CSGALNACT1 were changed from Desbuquois dysplasia with mild joint laxity; non-proportionate short stature to Desbuquois dysplasia with mild joint laxity; non-proportionate short stature; Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870; skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.43 | CSGALNACT1 | Eleanor Williams Publications for gene: CSGALNACT1 were set to 27599773; 31325655 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.42 | CSGALNACT1 | Eleanor Williams edited their review of gene: CSGALNACT1: Changed publications: 27599773, 31325655, 31705726 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.42 | CSGALNACT1 | Eleanor Williams reviewed gene: CSGALNACT1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870, skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.3 | CSGALNACT1 |
Tracy Lester gene: CSGALNACT1 was added gene: CSGALNACT1 was added to Skeletal dysplasia. Sources: Expert Review Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSGALNACT1 were set to 27599773; 31325655 Phenotypes for gene: CSGALNACT1 were set to Desbuquois dysplasia with mild joint laxity; non-proportionate short stature Added comment: Desbuquois dysplasia with mild joint laxity - 2 cases reported plus a mouse model that recapitulates the phenotype: green gene for skeletal dysplasia panel Sources: Expert Review |
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