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| Ichthyosis and erythrokeratoderma v3.9 | CDSN | Arina Puzriakova Phenotypes for gene: CDSN were changed from Hypotrichosis 2; Peeling skin syndrome 1 to Peeling skin syndrome 1, OMIM:270300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.8 | CDSN | Arina Puzriakova Mode of inheritance for gene: CDSN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.7 | CDSN | Arina Puzriakova Classified gene: CDSN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.7 | CDSN |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review. Changing MOI from 'BOTH mono- and biallelic' to 'BIALLELIC' as monoallelic variants are associated with hypotrichosis simplex of the scalp without other abnormalities (MIM# 146520). |
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| Ichthyosis and erythrokeratoderma v3.7 | CDSN | Arina Puzriakova Gene: cdsn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.6 | CDSN |
Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: CDSN. Tag Q4_23_NHS_review tag was added to gene: CDSN. |
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| Ichthyosis and erythrokeratoderma v3.3 | CDSN |
Tom Cullup gene: CDSN was added gene: CDSN was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: CDSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CDSN were set to PubMed: 21191406; 12754508; 23957618 Phenotypes for gene: CDSN were set to Hypotrichosis 2; Peeling skin syndrome 1 Penetrance for gene: CDSN were set to unknown Review for gene: CDSN was set to GREEN Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166 Sources: Expert list |
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