Intellectual disability
Gene: ZNF335

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

4 reviews

Sarah Leigh (Genomics England Curator)

After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

Created: 9 Mar 2022, 3:40 p.m.
Last Modified: 9 Mar 2022, 3:40 p.m.
Panel version: 3.1510

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated Green at the next GMS panel update (added 'for-review' tag).
Created: 27 Oct 2020, 11:57 a.m. | Last Modified: 27 Oct 2020, 11:57 a.m.

Panel Version: 3.488

Removed 'watchlist' tag as there are now sufficient cases to support a gene-disease association, and for this gene to be rated Green.
Created: 27 Oct 2020, 11:55 a.m. | Last Modified: 27 Oct 2020, 11:55 a.m.

Panel Version: 3.487

At least 6 unrelated families reported in literature with different biallelic variants in ZNF335. Microcephaly is the primary feature of the phenotype, but also in association with intellectual disability in nearly all cases. Only one less severely affected individual (patient B from PMID:29652087), in whom mild delay was also reported.
Created: 27 Oct 2020, 11:54 a.m. | Last Modified: 27 Oct 2020, 11:54 a.m.

Panel Version: 3.487

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 10, primary, autosomal recessive, 615095

Publications

Created: 27 Oct 2020, 11:54 a.m.
Last Modified: 27 Oct 2020, 11:54 a.m.
Panel version: 3.487

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated families reported.
Created: 4 Mar 2020, 2:11 a.m. | Last Modified: 4 Mar 2020, 2:11 a.m.

Panel Version: 3.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 10, primary, autosomal recessive, OMIM #615095

Publications

Created: 4 Mar 2020, 2:11 a.m.
Last Modified: 4 Mar 2020, 2:11 a.m.
Panel version: 3.3

Rebecca Foulger (Genomics England curator)

I don't know

At time of curation, currently Amber on 'Primary Microcephaly - Microcephalic Dwarfism Spectrum' panel as variants identified in 1 family only (PMID:23178126). 2 further related 'Pathogenic' variants submitted to ClinVar by Baylor. And 1 futher 'likely pathogenic' variant submitted to ClinVar by Chicago lab. Correspondance with the labs when curating the microcephaly panel confirmed that both patient phenotypes included DD, and the Baylor patient had recorded ID. Therefore rated as Amber until these (or additional) studies are published.
Created: 29 Nov 2017, 11:19 a.m.

Comment on list classification: Kept rating as Red until further variant information becomes available/published.
Created: 3 Mar 2017, 1:40 p.m.

2 'Pathogenic' variants submitted to ClinVar by Baylor, under 'Primary autosomal recessive microcephaly 10': NM_022095.3(ZNF335):c.3787G>T (p.Glu1263Ter) NM_022095.3(ZNF335):c.2744_2747delGTGA (p.Ser915Thrfs). Email correspondance with the Baylor lab revealed that the proband's phenotype was developmental delay, intellectual disability, seizures, hypomyelination, failure to thrive. A paper is currently in press in Genome Medicine.
Created: 3 Mar 2017, 1:39 p.m.

1 'likely pathogenic' variant submitted to ClinVar by Chicago lab, under 'Primary autosomal recessive microcephaly 10': NM_022095.3(ZNF335):c.2515_2518dupGCCA (p.Thr840Serfs). In email correspondance, the lab confirmed that they saw this variant in one patient, who was reported to have microcephaly, encephalopathy and developmental delay. The variant was heterozygous, and no second variant was found by either sequencing or deletion/duplication studies.
Created: 3 Mar 2017, 1:39 p.m.

Mode of inheritance
Unknown

Phenotypes
?Microcephaly 10, primary, autosomal recessive, 615095; developmental delay; intellectual disability

Publications

23178126

Created: 3 Mar 2017, 1:39 p.m.

Panel version: 1.462

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Other

Phenotypes

Microcephaly 10, primary, autosomal recessive, 615095

OMIM

610827

Clinvar variants

Variants in ZNF335

Penetrance

Complete

Publications

Panels with this gene