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| Ectodermal dysplasia v1.37 | PRKD1 |
Catherine Snow changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS "Green - rare form of EB (telangietasia-ED-brachydactyly-cardia anomaly syndrome) (Alter et al. J Med Genet 2021)"; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS. "Green - rare form of EB (telangietasia-ED-brachydactyly-cardia anomaly syndrome) (Alter et al. J Med Genet 2021)" |
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| Ectodermal dysplasia v1.37 | PRKD1 | Catherine Snow Tag for-review was removed from gene: PRKD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.37 | PRKD1 | Catherine Snow commented on gene: PRKD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.36 | PRKD1 |
Catherine Snow Source Expert Review Green was added to PRKD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ectodermal dysplasia v1.8 | PRKD1 | Arina Puzriakova Classified gene: PRKD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.8 | PRKD1 | Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases to support a gene-disease association. Therefore, PRKD1 should be upgraded from Amber to Green at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.8 | PRKD1 | Arina Puzriakova Gene: prkd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.7 | PRKD1 |
Arina Puzriakova gene: PRKD1 was added gene: PRKD1 was added to Ectodermal dysplasia. Sources: Literature for-review tags were added to gene: PRKD1. Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKD1 were set to 27479907; 32817298 Phenotypes for gene: PRKD1 were set to Congenital heart defects and ectodermal dysplasia, 617364 Review for gene: PRKD1 was set to GREEN Added comment: PMID: 27479907 (2016) - Three unrelated cases with de novo missense variants in the PRKD1 gene. Variable characteristics of ectodermal dysplasia included sparse hair, dry or thin skin, fragile nails, and dental abnormalities (premature loss of primary teeth, small widely spaced teeth). Additional features include atrioventricular septal defects or pulmonic stenosis, severe developmental delay and microcephaly. No functional studies of the variants were performed. PMID: 32817298 (2020) - Two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, respectively. Both displayed features of ectodermal dysplasia such as dry skin, absence of permanent teeth and poor hair growth. Other features included congenital heart defects, skeletal abnormalities and generalised teleangiectasia. Sources: Literature |
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