Fetal anomalies
Gene: KIAA0753

KIAA0753 (KIAA0753)
EnsemblGeneIds (GRCh38): ENSG00000198920
EnsemblGeneIds (GRCh37): ENSG00000198920
OMIM: 617112, Gene2Phenotype
KIAA0753 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 29 Jan 2021, 2:39 p.m. | Last Modified: 29 Jan 2021, 2:39 p.m.

Panel Version: 1.238

Created: 29 Jan 2021, 2:39 p.m.
Last Modified: 29 Jan 2021, 2:39 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia
Sources: Expert list
Created: 28 Jan 2021, 6 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Orofaciodigital syndrome XV

Created: 28 Jan 2021, 6 p.m.

Panel version: 1.214

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

?Orofaciodigital syndrome XV, OMIM:617127
Orofaciodigital syndrome XV, MONDO:0014932

OMIM

617112

Clinvar variants

Variants in KIAA0753

Penetrance

None

Publications

Panels with this gene