| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.568 | C3orf52 | Zornitza Stark Phenotypes for gene: C3orf52 were changed from Localized hypotrichosis to Hypotrichosis-15, MIM#620177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.567 | C3orf52 | Zornitza Stark edited their review of gene: C3orf52: Changed phenotypes: Hypotrichosis-15, MIM#620177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3670 | C3orf52 | Zornitza Stark Marked gene: C3orf52 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3670 | C3orf52 | Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3670 | C3orf52 | Zornitza Stark Classified gene: C3orf52 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3670 | C3orf52 | Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3669 | C3orf52 |
Zornitza Stark gene: C3orf52 was added gene: C3orf52 was added to Mendeliome. 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: 2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. 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 LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6) Sources: Literature |
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