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| 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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