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Mendeliome

Gene: KIZ

Green List (high evidence)

KIZ (kizuna centrosomal protein)
EnsemblGeneIds (GRCh38): ENSG00000088970
EnsemblGeneIds (GRCh37): ENSG00000088970
OMIM: 615757, Gene2Phenotype
KIZ is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported.
Created: 11 Mar 2022, 6:33 a.m. | Last Modified: 11 Mar 2022, 6:33 a.m.
Panel Version: 0.11281

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 69, MIM# 615780

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 69, MIM# 615780
OMIM
615757
Clinvar variants
Variants in KIZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIZ were changed from to Retinitis pigmentosa 69, MIM# 615780

11 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIZ were set to

11 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIZ was added gene: KIZ was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIZ was set to Unknown