| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ectodermal dysplasia v2.6 | C3orf52 | Achchuthan Shanmugasundram Tag gene-checked was removed from gene: C3orf52. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v2.6 | C3orf52 | Achchuthan Shanmugasundram Phenotypes for gene: C3orf52 were changed from Localized hypotrichosis to Hypotrichosis 15, OMIM:620177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.41 | C3orf52 | Eleanor Williams Tag gene-checked tag was added to gene: C3orf52. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.37 | C3orf52 | Catherine Snow Tag for-review was removed from gene: C3orf52. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.37 | C3orf52 | Catherine Snow commented on gene: C3orf52 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.36 | C3orf52 |
Catherine Snow Source Expert Review Green was added to C3orf52. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ectodermal dysplasia v1.10 | C3orf52 | Eleanor Williams Tag for-review tag was added to gene: C3orf52. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.10 | C3orf52 | Eleanor Williams Classified gene: C3orf52 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.10 | C3orf52 | Eleanor Williams Added comment: Comment on list classification: Adding this gene as Amber as two cases reported. This gene should be looked at, at the next GMS review to assess whether the phenotype is relevant to the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.10 | C3orf52 | Eleanor Williams Gene: c3orf52 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.9 | C3orf52 |
Eleanor Williams gene: C3orf52 was added gene: C3orf52 was added to Ectodermal dysplasia. 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: Not associated with a phenotype in OMIM. 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. Sources: Literature |
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