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| Mosaic skin disorders - deep sequencing v2.26 | PTCH1 | Arina Puzriakova Publications for gene: PTCH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.25 | PTCH1 | Arina Puzriakova Classified gene: PTCH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.25 | PTCH1 | Arina Puzriakova Added comment: Comment on list classification: New gene on this panel added by Tom Cullup (GOSH). Multiple cases have been reported where linear and segmental basal cell carcinomas developed due to cutaneous mosaicism of a heterozygous variant in the PTCH1 gene (PMID: 23746055; 27658957; 30520020; 32298489; 35235545; 36002246). These variants may not be picked up via other panels for the phenotype and therefore this gene should be promoted to Green at then next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.25 | PTCH1 | Arina Puzriakova Gene: ptch1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.24 | PTCH1 |
Arina Puzriakova Tag mosaicism tag was added to gene: PTCH1. Tag somatic tag was added to gene: PTCH1. |
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| Mosaic skin disorders - deep sequencing v2.24 | PTCH1 |
Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: PTCH1. Tag Q3_23_NHS_review tag was added to gene: PTCH1. |
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| Mosaic skin disorders - deep sequencing v2.24 | PTCH1 | Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Gorlin syndrome / basal cell naevus syndrome to Basal cell nevus syndrome 1, OMIM:109400; Basal cell carcinoma, somatic, OMIM:605462; Gorlin syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.1 | PTCH1 |
Tom Cullup gene: PTCH1 was added gene: PTCH1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Gorlin syndrome / basal cell naevus syndrome Penetrance for gene: PTCH1 were set to unknown Review for gene: PTCH1 was set to GREEN Added comment: Well established cause of Gorlin / BCN syndrome. Need to add to mosaic panel in order that mosaic patients / presentations can be accurately diagnosed - current existing indication (R214) does not include low-level variant analysis. Sources: Expert list |
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