1. Panels
  2. Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
  3. KIAA0753
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Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy

Gene: KIAA0753

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional families reported.
Created: 12 Aug 2021, 11:33 p.m. | Last Modified: 12 Aug 2021, 11:33 p.m.
Panel Version: 1.3
Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype.
Sources: Expert list
Created: 24 May 2020, 11:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479

Publications

Created: 24 May 2020, 11:11 a.m.

Panel version: 1.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 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

12 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIAA0753 were changed from Short-rib skeletal dysplasia to Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479

12 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIAA0753 were set to 29138412

24 May 2020, 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).

24 May 2020, 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).

24 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIAA0753 was added gene: KIAA0753 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0753 were set to 29138412 Phenotypes for gene: KIAA0753 were set to Short-rib skeletal dysplasia Review for gene: KIAA0753 was set to GREEN