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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. KIZ
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Retinitis pigmentosa_Autosomal Recessive/X-linked

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: 12 Mar 2022, 1:07 a.m. | Last Modified: 12 Mar 2022, 1:07 a.m.
Panel Version: 0.107

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 69, MIM# 615780

Publications

Created: 12 Mar 2022, 1:07 a.m.
Last Modified: 12 Mar 2022, 1:07 a.m.
Panel version: 0.107

Details

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

History Filter Activity

12 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).

12 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIZ were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KIZ was added gene: KIZ was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: KIZ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIZ were set to Retinitis pigmentosa 69