| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Non-syndromic hypotrichosis v1.12 | C3orf52 | Achchuthan Shanmugasundram Phenotypes for gene: C3orf52 were changed from Localized hypotrichosis to Hypotrichosis 15, OMIM:620177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic hypotrichosis v1.4 | C3orf52 | Eleanor Williams Classified gene: C3orf52 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic hypotrichosis v1.4 | C3orf52 | Eleanor Williams Added comment: Comment on list classification: 2 cases, but may not be relevant to the panel (localized hypotrichosis) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic hypotrichosis v1.4 | C3orf52 | Eleanor Williams Gene: c3orf52 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic hypotrichosis v1.3 | C3orf52 |
Eleanor Williams gene: C3orf52 was added gene: C3orf52 was added to Non-syndromic hypotrichosis. Sources: Literature Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C3orf52 were set to 32336749 Phenotypes for gene: C3orf52 were set to Localized hypotrichosis Review for gene: C3orf52 was set to AMBER Added comment: PMID: 32336749 - Malki et al 2020 - identified homozygous variants in C3ORF52 in four individuals with Localized autosomal recessive hypotrichosis (LAH) (2 families). C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H-mediated LPA biosynthesis. Abstract only accessed. Although localized hypotrichosis is an exclusion criteria for this gene, it has been added to this panel as Amber as maybe useful information in the future. Sources: Literature |
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