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Mosaic skin disorders - deep sequencing v1.22 | PORCN |
Arina Puzriakova Tag Q4_21_rating was removed from gene: PORCN. Tag Q4_21_NHS_review was removed from gene: PORCN. |
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Mosaic skin disorders - deep sequencing v1.22 | PORCN | Arina Puzriakova commented on gene: PORCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v1.21 | PORCN |
Arina Puzriakova Source Expert Review Green was added to PORCN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Mosaic skin disorders - deep sequencing v1.18 | PORCN | Eleanor Williams Tag Q4_21_NHS_review tag was added to gene: PORCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v1.15 | PORCN | Eleanor Williams Tag mosaicism tag was added to gene: PORCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v1.15 | PORCN | Eleanor Williams Classified gene: PORCN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v1.15 | PORCN | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for a GREEN rating following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v1.15 | PORCN | Eleanor Williams Gene: porcn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v1.14 | PORCN | Eleanor Williams Tag Q4_21_rating tag was added to gene: PORCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v1.14 | PORCN | Eleanor Williams Phenotypes for gene: PORCN were changed from Focal dermal hypoplasia (https://omim.org/entry/305600) to Focal dermal hypoplasia, OMIM:305600; focal dermal hypoplasia, MONDO:0010592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v1.13 | PORCN | Eleanor Williams Publications for gene: PORCN were set to 17546030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v1.12 | PORCN | Eleanor Williams edited their review of gene: PORCN: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v1.12 | PORCN | Eleanor Williams reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17546030, 19309688; Phenotypes: Focal dermal hypoplasia, OMIM:305600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mosaic skin disorders - deep sequencing v1.9 | PORCN |
Tom Cullup gene: PORCN was added gene: PORCN was added to Mosaic skin disorders - deep sequencing. Sources: Other Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PORCN were set to 17546030 Phenotypes for gene: PORCN were set to Focal dermal hypoplasia (https://omim.org/entry/305600) Penetrance for gene: PORCN were set to unknown Review for gene: PORCN was set to GREEN Added comment: Sources: Other |