Congenital hypothyroidism
Gene: CDCA8EnsemblGeneIds (GRCh38): ENSG00000134690
EnsemblGeneIds (GRCh37): ENSG00000134690
OMIM: 609977, Gene2Phenotype
CDCA8 is in 4 panels
1 review
Chirag Patel (Genetic Health Queensland)
4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants.Created: 3 Feb 2021, 4:09 a.m. | Last Modified: 3 Feb 2021, 4:09 a.m.
Panel Version: 0.7
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital hypothyroidism, thyroid dysgenesis, no OMIM #
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Congenital hypothyroidism, MONDO:0018612, CDCA8-related
- OMIM
- 609977
- Clinvar variants
- Variants in CDCA8
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CDCA8 were changed from Congenital hypothyroidism; No OMIM number; thyroid dysgenesis to Congenital hypothyroidism, MONDO:0018612, CDCA8-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdca8 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: cdca8 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CDCA8 was added gene: CDCA8 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp 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; No OMIM number; thyroid dysgenesis Mode of pathogenicity for gene: CDCA8 was set to Other