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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. ZNF408
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: ZNF408

Green List (high evidence)
ZNF408 (zinc finger protein 408)
EnsemblGeneIds (GRCh38): ENSG00000175213
EnsemblGeneIds (GRCh37): ENSG00000175213
OMIM: 616454, Gene2Phenotype
ZNF408 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported. Note mono allelic variants linked to vitreal retinopathy, and some individuals with bi-allelic variants also noted to have vitreal changes.
Created: 6 Mar 2022, 1:11 a.m. | Last Modified: 6 Mar 2022, 1:11 a.m.
Panel Version: 0.104

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 72, MIM# 616469

Publications

Created: 6 Mar 2022, 1:11 a.m.
Last Modified: 6 Mar 2022, 1:11 a.m.
Panel version: 0.104

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 72, MIM# 616469
OMIM
616454
Clinvar variants
Variants in ZNF408
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf408 has been classified as Green List (High Evidence).

6 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF408 were changed from Retinitis pigmentosa 72; Familial exudative vitreoretinopathy (FEVR) to Retinitis pigmentosa 72, MIM# 616469

6 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZNF408 were set to

6 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZNF408 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ZNF408 was added gene: ZNF408 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ZNF408 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ZNF408 were set to Retinitis pigmentosa 72; Familial exudative vitreoretinopathy (FEVR)