Research panel - Severe Paediatric Disorders
Gene: ZNF292

ZNF292 (zinc finger protein 292)
EnsemblGeneIds (GRCh38): ENSG00000188994
EnsemblGeneIds (GRCh37): ENSG00000188994
OMIM: 616213, Gene2Phenotype
ZNF292 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. At least seven autosomal dominant or de novo ZNF292 variants have been reported in at least eleven unrelated cases of Intellectual developmental disorder, autosomal dominant 64 (OMIM: 619188)(PMID: 31723249).
Created: 10 Jan 2023, 12:52 p.m. | Last Modified: 10 Jan 2023, 12:52 p.m.

Panel Version: 1.131

Created: 10 Jan 2023, 12:52 p.m.
Last Modified: 10 Jan 2023, 12:52 p.m.
Panel version: 1.131

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ZNF292; Recommended initial gene rating: I don't know; Phenotypes: ?Tetra-amelia syndrome 1, 273395 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:28 p.m.
Last Modified: 20 Feb 2020, 5:28 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Next Generation Children Project
Expert list

Phenotypes

Intellectual developmental disorder, autosomal dominant 64, OMIM:619188
intellectual developmental disorder, autosomal dominant 64, MONDO:0030934

OMIM

616213

Clinvar variants

Variants in ZNF292

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 Jan 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ZNF292 were set to 30847515

10 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: znf292 has been classified as Green List (High Evidence).

10 Jan 2023, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ZNF292 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 Jan 2023, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ZNF292 were changed from ?Tetra-amelia syndrome 1, 273395 to Intellectual developmental disorder, autosomal dominant 64, OMIM:619188; intellectual developmental disorder, autosomal dominant 64, MONDO:0030934

20 Feb 2020, Gel status: 2