Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal disorders

Gene: ZNF408

Green List (high evidence)

ZNF408 (zinc finger protein 408)
EnsemblGeneIds (GRCh38): ENSG00000175213
EnsemblGeneIds (GRCh37): ENSG00000175213
OMIM: 616454, Gene2Phenotype
ZNF408 is in 1 panel

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ellen Thomas (Genomics England Curator)

Comment on list classification: 2 families with biallelic mutations with RP; 2 families with monoallelic mutations with FEVR; plus zebrafish evidence.
Created: 17 Jun 2016, 3:18 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial exudative vitreoretinopathy (FEVR)
OMIM
616454
Clinvar variants
Variants in ZNF408
Penetrance
Complete
Publications
  • PMID: 23716654
  • PMID: 27228167
  • PMID: 25882705 - associated of homozygous variants in Retinitis pigmentosa
  • PMID: 25711638 - c.G443A:p.R148Q identified in a proband with FEVR, found in two affected family members and not in 20,000 controls from databases.
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ZNF408. Rating Changed from Green List (high evidence) to Green List (high evidence)

17 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

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

17 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Jun 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ZNF408 were set to PMID: 23716654; PMID: 27228167; PMID: 25882705 - associated of homozygous variants in Retinitis pigmentosa; PMID: 25711638 - c.G443A:p.R148Q identified in a proband with FEVR, found in two affected family members and not in 20,000 controls from databases.

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF408 was added to Posterior segment abnormalitiespanel. Sources: Expert list

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ZNF408 was created by ellenmcdonagh