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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.
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)
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