Congenital hypothyroidism
Gene: CDCA8Comment on list classification: Promoted from red to amber as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).Created: 17 Jan 2019, 1:28 p.m.
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: LiteratureCreated: 11 Jan 2019, 1:44 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital hypothyroidism; thyroid dysgenesis
Publications
Mode of pathogenicity
Other
Gene: cdca8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CDCA8 were changed from Congenital hypothyroidism; thyroid dysgenesis to Congenital hypothyroidism; thyroid dysgenesis; No OMIM number
Source NHS GMS was added to CDCA8.
Source Expert Review was added to CDCA8. Rating Changed from No List (delete) to Red List (low evidence)
All sources for gene: CDCA8 were removed
Gene: cdca8 has been classified as Amber List (Moderate Evidence).
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