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| Differences in sex development v2.23 | PAX8 | Ivone Leong Classified gene: PAX8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v2.23 | PAX8 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. This gene has been given an Amber rating as more evidence is required to support a gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v2.23 | PAX8 | Ivone Leong Gene: pax8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v2.22 | PAX8 | Ivone Leong Tag watchlist tag was added to gene: PAX8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v2.22 | PAX8 |
Ivone Leong Added comment: Comment on publications: PMID: 25484916 describes a case of a patient with MRKH and hypothyroidism with a de novo deletion of 2q13-14.2 region (includes PAX8). PMID: 31731040 describes a second case of a patient with MRKH and congenital thyroid gland hypoplasia with a de novo interstitial 2q12.1q14.1 deletion (the region includes PAX8). In both PMID: 25484916 and 31731040, the authors theorise that PAX8 may be responsible. |
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| Differences in sex development v2.22 | PAX8 | Ivone Leong Publications for gene: PAX8 were set to 33434492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v2.21 | PAX8 | Ivone Leong Phenotypes for gene: PAX8 were changed from Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), MONDO:0017771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v2.16 | PAX8 |
Zornitza Stark gene: PAX8 was added gene: PAX8 was added to Disorders of sex development. Sources: Literature Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX8 were set to 33434492 Phenotypes for gene: PAX8 were set to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) Review for gene: PAX8 was set to AMBER Added comment: Variants in this gene are associated with congenital hypothyroidism. 5 individuals identified in large cohorts with MRKHS and likely deleterious variants in PAX8. At least one of the individuals had congenital hypothyroidism together with features of MRKHS, suggesting this is phenotype expansion. Amber rating suggested due to limited case-level data. Sources: Literature |
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