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  3. KIAA0825
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Fetal anomalies

Gene: KIAA0825

Amber List (moderate evidence)
KIAA0825 (KIAA0825)
EnsemblGeneIds (GRCh38): ENSG00000185261
EnsemblGeneIds (GRCh37): ENSG00000185261
OMIM: 617266, Gene2Phenotype
KIAA0825 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Chandler (North Thames GLH)

I don't know

Green in limb disorder panel. PMID:32147526 - 2 sibs 1 family with bilateral polydactyly of both hands and toes. No other features. PMID:33776623 - 2 patients 1 family. 1 had bialteral polydactyly of both hands and feet, other 1 hand and both feet. No other anomalies. PMID:30982135 - 2 families 4 affected just polydactyly no other features. Amber - would not meet R21 eligibility critreia unless other fetaures.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polydactyly, postaxial, type A10, OMIM:618498

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Polydactyly, postaxial, type A10, OMIM:618498
OMIM
617266
Clinvar variants
Variants in KIAA0825
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KIAA0825 was added gene: KIAA0825 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0825 were set to 30982135; 32147526; 33776623 Phenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10, OMIM:618498