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| Ectodermal dysplasia v1.35 | AXIN2 |
Arina Puzriakova Tag Q4_21_expert_review was removed from gene: AXIN2. Tag Q4_21_NHS_review was removed from gene: AXIN2. |
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| Ectodermal dysplasia v1.35 | AXIN2 | Arina Puzriakova commented on gene: AXIN2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.34 | AXIN2 |
Arina Puzriakova Source Expert Review Green was added to AXIN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ectodermal dysplasia v1.30 | AXIN2 | Arina Puzriakova Publications for gene: AXIN2 were set to 15042511 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.29 | AXIN2 | Arina Puzriakova Tag Q4_21_expert_review tag was added to gene: AXIN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.29 | AXIN2 | Arina Puzriakova Classified gene: AXIN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.29 | AXIN2 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Variants are associated with tooth agenesis (PMID: 15042511; 21626677; 30671715; 32807118), often additionally with colon polyps and colorectal cancer. Two families have been identified with concurrent ectodermal dysplasia including sparse or brittle hair and/or eyebrows and dry skin (PMID: 21416598; 34637023). Given that in most families ectodermal features are isolated to oligodontia only, this gene will be flagged for GMS review to determine whether there is enough evidence to rate AXIN2 as Green on this panel. |
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| Ectodermal dysplasia v1.29 | AXIN2 | Arina Puzriakova Gene: axin2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.28 | AXIN2 | Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: AXIN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.28 | AXIN2 | Arina Puzriakova Phenotypes for gene: AXIN2 were changed from OLIGODONTIA-COLORECTAL CANCER SYNDROME to Oligodontia-colorectal cancer syndrome, OMIM:608615 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.26 | AXIN2 |
Tom Cullup gene: AXIN2 was added gene: AXIN2 was added to Ectodermal dysplasia. Sources: Other Mode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AXIN2 were set to 15042511 Phenotypes for gene: AXIN2 were set to OLIGODONTIA-COLORECTAL CANCER SYNDROME Penetrance for gene: AXIN2 were set to unknown Review for gene: AXIN2 was set to GREEN Added comment: Sources: Other |
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