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| Ectodermal dysplasia v3.22 | KRT83 |
Arina Puzriakova Added comment: Comment on list classification: KRT81 is associated with two relevant phenotypes in OMIM (MIM# 158000) and G2P with a 'definitive' disease confidence classification for monilethrix. Monoallelic variant have been linked to monilethrix in two families (PMID: 15744029; 25557232) while biallelic variants were found in one family with EKVP5 (PMID: 27965375). Overall no additional evidence has been published since the last review and therefore going to maintain the amber rating for now, but adding a 'watchlist' tag to monitor for additional evidence that may lead to future upgrade to green. Other keratin genes, like KRT81 and KRT86 have been added as amber with the recommendation of being made green at the next review. |
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| Ectodermal dysplasia v3.21 | KRT86 | Arina Puzriakova Publications for gene: KRT86 were set to 10469314; 10594761; 10504448; 12653715; 10878478; 25557232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.18 | KRT86 | Arina Puzriakova Publications for gene: KRT86 were set to PMID: 10469314; 10594761; 10504448; 12653715 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.17 | KRT86 | Arina Puzriakova Classified gene: KRT86 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.17 | KRT86 | Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Ronnie Wright (NWGLH). KRT86 is associated with a relevant phenotype in OMIM (MIM# 158000) and G2P with a 'definitive' disease confidence classification. Monoallelic variant have been linked to monilethrix and multiple (>3) families have been reported in the literature. Overall there is enough evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.17 | KRT86 | Arina Puzriakova Gene: krt86 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.16 | KRT86 |
Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: KRT86. Tag Q4_23_NHS_review tag was added to gene: KRT86. |
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| Ectodermal dysplasia v3.14 | KRT86 | Arina Puzriakova Phenotypes for gene: KRT86 were changed from Monilethrix to Monilethrix, OMIM:158000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.8 | KRT86 |
Ronnie Wright gene: KRT86 was added gene: KRT86 was added to Ectodermal dysplasia. Sources: NHS GMS Mode of inheritance for gene: KRT86 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT86 were set to PMID: 10469314; 10594761; 10504448; 12653715 Phenotypes for gene: KRT86 were set to Monilethrix Penetrance for gene: KRT86 were set to Incomplete Review for gene: KRT86 was set to GREEN Added comment: We've had clinician enquiries in North West GLH about Keratin Genes associated with Monilethrix (see also KRT81 and KRT83) not being present in Ectodermal dysplasia panel. It may be worth reviewing the evidence for all 3 of these genes. There are few publications for KRT81 and KRT83 but I think there are sufficient for KRT86 and for all 3 genes the reported variants seem to be consistent with pathogenic enriched regions in Keratin genes (see PER viewer for whole Keratin gene family https://per.broadinstitute.org/). Sources: NHS GMS |
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| Ectodermal dysplasia v0.34 | KRT83 |
Catherine Snow changed review comment from: KRT81 is in OMIM with relevant phenotype of Monilethrix, KRT81 is part of a family of genes with KRT86 and KRT83 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix. In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype. As neither phenotype has more than three variants identified KRT83 will be classified as Amber.; to: KRT83 is in OMIM with relevant phenotype of Monilethrix, KRT83 is part of a family of genes with KRT86 and KRT81 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix. In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype. As neither phenotype has more than three variants identified KRT83 will be classified as Amber. |
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| Ectodermal dysplasia v0.34 | KRT83 |
Catherine Snow edited their review of gene: KRT83: Added comment: KRT81 is in OMIM with relevant phenotype of Monilethrix, KRT81 is part of a family of genes with KRT86 and KRT83 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix. In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype. As neither phenotype has more than three variants identified KRT83 will be classified as Amber.; Changed phenotypes: Monilethrix, 158000, Erythrokeratodermia variabilis et progressiva, 617756; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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