Activity
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12 actions
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| White matter disorders and cerebral calcification - narrow panel v6.9 | LSM7 | Arina Puzriakova Tag watchlist tag was added to gene: LSM7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.9 | LSM7 | Arina Puzriakova Classified gene: LSM7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.9 | LSM7 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber as one individual died in utero and their phenotype could not be compared to the other two cases. Additionally, although likely homozygous based on the carrier status of the parents, the genotype of this individual is presumed and not confirmed. Overall the evidence is borderline Amber/Green so adding a watchlist tag to monitor for additional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.9 | LSM7 | Arina Puzriakova Gene: lsm7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.8 | LSM7 | Arina Puzriakova edited their review of gene: LSM7: Added comment: Additional family identified with compound heterozygous missense variants in this gene (PMID:39420558). The proband presented with neurodevelopmental defects, leukodystrophy, spastic quadriparesis, and cerebellar atrophy. Authors state that this individual harboured heterozygous variants of each of the previously reported homozygous variants identified in patients from PMID:35047835.; Changed publications to: 35047835, 39420558; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.8 | LSM7 | Arina Puzriakova Added comment: Comment on publications: PMID: 39420558 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.8 | LSM7 | Arina Puzriakova Publications for gene: LSM7 were set to https://doi.org/10.1016/j.xhgg.2021.100034 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.96 | LSM7 | Ivone Leong Classified gene: LSM7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.96 | LSM7 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Currently there is not enough evidence to support a gene-disease association. Until there are more cases this gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.96 | LSM7 | Ivone Leong Gene: lsm7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.95 | LSM7 | Ivone Leong Phenotypes for gene: LSM7 were changed from Leukodystrophy; fetal death to Leukodystrophy, MONDO:0019046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.72 | LSM7 |
Zornitza Stark gene: LSM7 was added gene: LSM7 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: LSM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSM7 were set to https://doi.org/10.1016/j.xhgg.2021.100034 Phenotypes for gene: LSM7 were set to Leukodystrophy; fetal death Review for gene: LSM7 was set to RED Added comment: Homozygous variant (p.Asp41Asn) identified in a child with leukodystrophy and a homozygous variant (p.Arg69Pro) identified in an individual that died in utero. In vitro and in vivo (zebrafish) assays supporting pathogenicity of the 2 variants. Sources: Literature |
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