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Intellectual disability

Gene: ZNF335

Amber List (moderate evidence)

ZNF335 (zinc finger protein 335)
EnsemblGeneIds (GRCh38): ENSG00000198026
EnsemblGeneIds (GRCh37): ENSG00000198026
OMIM: 610827, Gene2Phenotype
ZNF335 is in 3 panels

2 reviews

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

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Microcephaly 10, primary, autosomal recessive, 615095
  • developmental delay
  • intellectual disability
Tags
watchlist
OMIM
610827
Clinvar variants
Variants in ZNF335
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to ZNF335. Panel: Intellectual disability Publications for gene ZNF335 was set to ['23178126']

3 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

3 Mar 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ZNF335 was added to Intellectual disabilitypanel. Sources: Other

3 Mar 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ZNF335 was created by rfoulger