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| Arthrogryposis v5.15 | COL25A1 | Sarah Leigh Tag Q1_23_promote_green was removed from gene: COL25A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.15 | COL25A1 | Sarah Leigh reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.14 | COL25A1 |
Sarah Leigh Source NHS GMS was added to COL25A1. Source Expert Review Green was added to COL25A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Arthrogryposis v5.3 | COL25A1 | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: COL25A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.3 | COL25A1 | Achchuthan Shanmugasundram Classified gene: COL25A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.3 | COL25A1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated cases) for promoting this gene to GREEN rating at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.3 | COL25A1 | Achchuthan Shanmugasundram Gene: col25a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.2 | COL25A1 |
Achchuthan Shanmugasundram gene: COL25A1 was added gene: COL25A1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL25A1 were set to 35077597 Phenotypes for gene: COL25A1 were set to Arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder Review for gene: COL25A1 was set to GREEN Added comment: PMID:35077597 reported five patients from three unrelated families identified with biallelic variants in COL25A1 gene presented with a phenotype characterized by arthrogryposis with or without an ocular congenital cranial dysinnervation disorder. The severity of arthrogryposis varied, ranging from mild distal upper limb involvement to arthrogryposis multiplex congenita. Although the extraocular muscle phenotype has been reported in OMIM (MIM # 616219) and Gene2Phenotype, arthrogryposis has not yet been included in these records. Sources: Literature |
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