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  3. ZNF335
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Early onset or syndromic epilepsy

Gene: ZNF335

Green List (high evidence)
ZNF335 (zinc finger protein 335)
EnsemblGeneIds (GRCh38): ENSG00000198026
EnsemblGeneIds (GRCh37): ENSG00000198026
OMIM: 610827, Gene2Phenotype
ZNF335 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
Created: 3 Mar 2022, 5:34 p.m.
Last Modified: 3 Mar 2022, 5:34 p.m.
Panel version: 2.491

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Rating Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag) as there are sufficient unrelated cases to support a gene-disease association.
Created: 27 Oct 2020, 12:41 p.m. | Last Modified: 27 Oct 2020, 12:41 p.m.
Panel Version: 2.203
At least 6 unrelated families reported in literature with different biallelic variants in ZNF335. Microcephaly is the primary feature, but also commonly in association with a variable epilepsy phenotype.

Stouffs et al. (PMID:29652087) report 2 unrelated cases: patient A, demonstrating refractory seizures leading to death at age 5 days, whereas patient B lacked any clinical seizures, but had frequent spasms that have yet to be recorded by EEG. The proband in Sato et al. (PMID:27540107) had rare focal seizures controlled by treatment. Although not noted by Yang et al. (PMID:231781260), affected individuals in that family had seizures described as paroxysmal myoclonic jerks (personal communication with Stouffs et al). The case by Rana et al. (PMID:31187448) presented multifocal drug-resistant epilepsy, and while details were limited in McSherry et al. (PMID:30500859), authors did also note seizures.
Sources: Literature
Created: 27 Oct 2020, 12:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 10, primary, autosomal recessive, 615095

Publications

Created: 27 Oct 2020, 12:40 p.m.

Panel version: 2.202

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 10, primary, autosomal recessive, 615095
OMIM
610827
Clinvar variants
Variants in ZNF335
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: ZNF335.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to ZNF335. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

27 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: znf335 has been classified as Amber List (Moderate Evidence).

27 Oct 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: ZNF335 was added gene: ZNF335 was added to Genetic epilepsy syndromes. Sources: Literature for-review tags were added to gene: ZNF335. Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF335 were set to 23178126; 27540107; 29652087; 30500859; 31187448 Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive, 615095 Review for gene: ZNF335 was set to GREEN