Activity
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13 actions
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| Fetal anomalies v5.80 | USP14 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: USP14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.78 | USP14 | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: USP14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.78 | USP14 | Achchuthan Shanmugasundram commented on gene: USP14: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | USP14 |
Achchuthan Shanmugasundram Source NHS GMS was added to USP14. Source Expert Review Green was added to USP14. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.23 | USP14 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four unrelated families snd functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.; to: Comment on list classification: There are four unrelated families and functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.23 | USP14 | Achchuthan Shanmugasundram Classified gene: USP14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.23 | USP14 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated families snd functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.23 | USP14 | Achchuthan Shanmugasundram Gene: usp14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.22 | USP14 | Achchuthan Shanmugasundram Publications for gene: USP14 were set to 38469793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.21 | USP14 | Achchuthan Shanmugasundram Phenotypes for gene: USP14 were changed from Syndromic disease MONDO:0002254, USP14-related to syndromic disease, MONDO:0002254; distal arthrogryposis, MONDO:0019942 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.20 | USP14 | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: USP14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.20 | USP14 | Achchuthan Shanmugasundram reviewed gene: USP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 35066879, 38469793; Phenotypes: syndromic disease, MONDO:0002254, distal arthrogryposis, MONDO:0019942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.157 | USP14 |
Zornitza Stark gene: USP14 was added gene: USP14 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to 38469793 Phenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related Review for gene: USP14 was set to AMBER Added comment: PMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330*), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs*24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations. Sources: Literature |
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