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| Skeletal dysplasia v5.3 | AXIN1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: AXIN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.3 | AXIN1 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance updated to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.3 | AXIN1 | Achchuthan Shanmugasundram commented on gene: AXIN1: The rating of this gene has been updated togreenand the mode of inheritance updated to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.2 | AXIN1 |
Achchuthan Shanmugasundram Source NHS GMS was added to AXIN1. Source Expert Review Green was added to AXIN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v4.23 | AXIN1 | Achchuthan Shanmugasundram Classified gene: AXIN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.23 | AXIN1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.23 | AXIN1 | Achchuthan Shanmugasundram Gene: axin1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.22 | AXIN1 | Achchuthan Shanmugasundram Phenotypes for gene: AXIN1 were changed from Syndromic disease, (MONDO:0002254), AXIN1-related; skeletal dysplasia to neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, MONDO:0018681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.21 | AXIN1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: AXIN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.21 | AXIN1 | Achchuthan Shanmugasundram reviewed gene: AXIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37582359; Phenotypes: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, MONDO:0018681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.18 | AXIN1 |
Zornitza Stark gene: AXIN1 was added gene: AXIN1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AXIN1 were set to 37582359 Phenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related; skeletal dysplasia Review for gene: AXIN1 was set to GREEN Added comment: PMID: 37582359 - four families (7 individuals) with three homozygous truncating variants. - all variant shown to result in reduced protein, though 1/3 would be NMD predicted - Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis Sources: Literature |
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