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| Clefting v4.68 | POLA1 |
Achchuthan Shanmugasundram changed review comment from: PMID:3100651 - Nine patients from five unrelated families were identified with POLA1 variants, of which one patient from family C (has two reported patients) was reported with bifid uvula. DECIPHER database - One of two patients with hemizygous sequence variants had bifid uvula. Sources: Literature; to: Bifid uvula is a minor clinical indication that is only found in two patients with POLA1 variants and it is not fully penetrant in the family. Hence, this gene should be rated red. PMID:3100651 - Nine patients from five unrelated families were identified with POLA1 variants, of which one patient from family C (has two reported patients) was reported with bifid uvula. DECIPHER database - One of two patients with hemizygous sequence variants had bifid uvula. Sources: Literature |
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| Clefting v4.68 | POLA1 |
Achchuthan Shanmugasundram gene: POLA1 was added gene: POLA1 was added to Clefting. Sources: Literature Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: POLA1 were set to 31006512; 37010288 Review for gene: POLA1 was set to RED Added comment: PMID:3100651 - Nine patients from five unrelated families were identified with POLA1 variants, of which one patient from family C (has two reported patients) was reported with bifid uvula. DECIPHER database - One of two patients with hemizygous sequence variants had bifid uvula. Sources: Literature |
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