Activity
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| Laterality disorders and isomerism v4.8 | AL117258.1 | Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: AL117258.1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.8 | AL117258.1 | Arina Puzriakova reviewed gene: AL117258.1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v4.7 | AL117258.1 |
Arina Puzriakova Source NHS GMS was added to AL117258.1. Source Expert Review Green was added to AL117258.1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Laterality disorders and isomerism v3.22 | AL117258.1 | Achchuthan Shanmugasundram commented on gene: AL117258.1: The 'new-gene-name' tag has been added as the HGNC approved symbol for this gene is CIROP. This gene was known by the previous symbol LMLN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.22 | AL117258.1 |
Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: AL117258.1. Tag gene-checked tag was added to gene: AL117258.1. |
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| Laterality disorders and isomerism v3.22 | AL117258.1 | Achchuthan Shanmugasundram Classified gene: AL117258.1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.22 | AL117258.1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (13 unrelated families) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.22 | AL117258.1 | Achchuthan Shanmugasundram Gene: al117258.1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.21 | AL117258.1 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: AL117258.1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.21 | AL117258.1 |
Achchuthan Shanmugasundram gene: AL117258.1 was added gene: AL117258.1 was added to Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: AL117258.1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AL117258.1 were set to 34903892; 39513328 Phenotypes for gene: AL117258.1 were set to Heterotaxy, visceral, 12, autosomal, OMIM:619702 Review for gene: AL117258.1 was set to GREEN Added comment: PMID:34903892 reported the identification of biallelic variants (either homozygous or compound heterozygous ) in the CIROP gene in 21 patients from 12 unrelated families of different geographic origin with congenital heterotaxy. There were a total of nine variants identified in these patients - 5 missense, 2 nonsense, a frameshift, and a small in-frame deletion. The disorder is characterised by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. Functional studies performed on Zebrafish and Xenopus knockout models replicated the heterotaxy phenotype. They also showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers. PMID:39513328 reported a cohort of 24 patients with heterotaxy from 19 unrelated families, of which two patients from a family were identified with homozygous missense CIROP variant. This gene has been associated with relevant phenotypes in OMIM (MIM #619702), but not in Gene2Phenotype. Sources: Literature |
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