| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v1.17 | CDCA8 | Ivone Leong Classified gene: CDCA8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.17 | CDCA8 | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.17 | CDCA8 | Ivone Leong Gene: cdca8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.16 | CDCA8 | Ivone Leong Phenotypes for gene: CDCA8 were changed from Congenital hypothyroidism; thyroid dysgenesis to Congenital hypothyroidism; thyroid dysgenesis; No OMIM number | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.14 | CDCA8 | Ivone Leong Source NHS GMS was added to CDCA8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.13 | CDCA8 |
Ivone Leong Source Expert Review was added to CDCA8. Rating Changed from No List (delete) to Red List (low evidence) |
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| Congenital hypothyroidism v1.12 | CDCA8 | Ivone Leong All sources for gene: CDCA8 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.11 | CDCA8 | Ivone Leong Classified gene: CDCA8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.11 | CDCA8 | Ivone Leong Gene: cdca8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.10 | CDCA8 |
Martina Owens gene: CDCA8 was added gene: CDCA8 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CDCA8 were set to 28025328; 29546359 Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism; thyroid dysgenesis Penetrance for gene: CDCA8 were set to unknown Mode of pathogenicity for gene: CDCA8 was set to Other Review for gene: CDCA8 was set to AMBER Added comment: Carre et al 2017 (PMID: 28025328) - Whole-exome sequencing of familial cases with thyroid dysgenesis: biallelic missense variants were found in 2 cases of one consanguineous family, and monoallelic variants in 2 other sporadic cases. Zou et al 2018 (PMID: 29546359) monallelic splice variant identified in patient with thyroid dysgenesis. Mechanistic role of CDCA8 in thyroid dysgenesis is still unclear. Sources: Literature |
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