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Fetal anomalies

Gene: CDCA8

Red List (low evidence)

CDCA8 (cell division cycle associated 8)
EnsemblGeneIds (GRCh38): ENSG00000134690
EnsemblGeneIds (GRCh37): ENSG00000134690
OMIM: 609977, Gene2Phenotype
CDCA8 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Typically presents post-natally, thyroid structural abnormalities difficult to detect on prenatal ultrasound.
Created: 21 Feb 2022, 7:44 a.m. | Last Modified: 21 Feb 2022, 7:44 a.m.
Panel Version: 0.3731

Phenotypes
Congenital hypothyroidism, thyroid dysgenesis, no OMIM #

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene associated with congenital hypothyroidism secondary to thyroid dysgenesis. No new publications since last PanelApp review Feb 2021

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4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants. GREEN for mono allelic, RED for biallelic.
Sources: Literature
Created: 21 Feb 2022, 12:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital hypothyroidism, thyroid dysgenesis, no OMIM #

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital hypothyroidism, thyroid dysgenesis, no OMIM #
OMIM
609977
Clinvar variants
Variants in CDCA8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdca8 has been classified as Red List (Low Evidence).

21 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdca8 has been classified as Red List (Low Evidence).

21 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: CDCA8 was added gene: CDCA8 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CDCA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDCA8 were set to 28025328; 29546359 Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism, thyroid dysgenesis, no OMIM # Review for gene: CDCA8 was set to GREEN