Activity
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6 actions
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| Ichthyosis and erythrokeratoderma v4.1 | VIPAS39 |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: VIPAS39. Tag Q3_25_promote_green tag was added to gene: VIPAS39. |
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| Ichthyosis and erythrokeratoderma v3.33 | VIPAS39 | Arina Puzriakova Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404) to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.32 | VIPAS39 | Arina Puzriakova Classified gene: VIPAS39 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.32 | VIPAS39 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.32 | VIPAS39 | Arina Puzriakova Gene: vipas39 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.31 | VIPAS39 |
Arina Puzriakova gene: VIPAS39 was added gene: VIPAS39 was added to Ichthyosis and erythrokeratoderma. Sources: Literature Q1_23_promote_green tags were added to gene: VIPAS39. Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VIPAS39 were set to 39736737; 37202112; 32239418; 26019847 Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404) Review for gene: VIPAS39 was set to GREEN Added comment: VIPAS39 biallelic variants cause Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404). At least 11 individuals have been reported in the literature. Ichthyosis is a feature of ARCS and has been reported in at least 7 individuals with VIPAS39 variants (PMID:39736737; 37202112; 32239418; 26019847) which supports inclusion of this gene on the panel. Sources: Literature |
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