1. Panels
  2. Congenital hypothyroidism
  3. CDCA8
STRs in panel
Prev Next

Congenital hypothyroidism

Gene: CDCA8

Amber List (moderate evidence)
CDCA8 (cell division cycle associated 8)
EnsemblGeneIds (GRCh38): ENSG00000134690
EnsemblGeneIds (GRCh37): ENSG00000134690
OMIM: 609977, Gene2Phenotype
CDCA8 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment 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.
Created: 17 Jan 2019, 1:28 p.m.

Panel version: 1.17

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

I don't know

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
Created: 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

Created: 11 Jan 2019, 1:44 p.m.

Panel version: 1.10

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert Review
Phenotypes
  • Congenital hypothyroidism
  • thyroid dysgenesis
  • No OMIM number
OMIM
609977
Clinvar variants
Variants in CDCA8
Penetrance
unknown
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

17 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cdca8 has been classified as Amber List (Moderate Evidence).

16 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CDCA8 were changed from Congenital hypothyroidism; thyroid dysgenesis to Congenital hypothyroidism; thyroid dysgenesis; No OMIM number

16 Jan 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CDCA8.

16 Jan 2019, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review was added to CDCA8. Rating Changed from No List (delete) to Red List (low evidence)

16 Jan 2019, Gel status: 0

Clear Sources

Ivone Leong (Genomics England Curator)

All sources for gene: CDCA8 were removed

16 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cdca8 has been classified as Amber List (Moderate Evidence).

11 Jan 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

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