1. Panels
  2. Skeletal Dysplasia_Fetal
  3. KIAA0753
STRs in panel
Prev Next
Regions in panel
Prev Next

Skeletal Dysplasia_Fetal

Gene: KIAA0753

Green List (high evidence)
KIAA0753 (KIAA0753)
EnsemblGeneIds (GRCh38): ENSG00000198920
EnsemblGeneIds (GRCh37): ENSG00000198920
OMIM: 617112, Gene2Phenotype
KIAA0753 is in 8 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Antenatal diagnosis of short limbs and narrow thorax has been reported.
Sources: Literature
Created: 9 Nov 2022, 12:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479; ?Orofaciodigital syndrome XV - MIM#617127; Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479

Publications

Created: 9 Nov 2022, 12:56 a.m.

Panel version: 0.173

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479
  • ?Orofaciodigital syndrome XV - MIM#617127
  • Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479
OMIM
617112
Clinvar variants
Variants in KIAA0753
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa0753 has been classified as Green List (High Evidence).

9 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa0753 has been classified as Green List (High Evidence).

9 Nov 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: KIAA0753 was added gene: KIAA0753 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0753 were set to PMID: 29138412 Phenotypes for gene: KIAA0753 were set to Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479; ?Orofaciodigital syndrome XV - MIM#617127; Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479 Review for gene: KIAA0753 was set to GREEN