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  3. ZNF335
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Fetal anomalies

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Green in microcephaly, epilspsy and ID panels. Associated with severe microcephaly but only 2 cases reports prenatal onset (summary of 5 cases in 4 families in PMID: 29652087) . 4/5 dymorphism, low sloping forehead, prominent nasal bridge. MRI findings significant in all, 3/4 ACC, hypoplasia of brainstem, cerebellar hemspheres & vermis, 3/4 enlarged ventricles,2/4 simplified gyral pattern, a;; hypomyelination of white matter, 3/4 enlarged subarachnoid spaces. PMID: 30500859 cranial MRI: corpus callosum agenesis, hydrocephaly, colpocephaly. Suggest green.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

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

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: ZNF335. Tag Q3_24_NHS_review was removed from gene: ZNF335.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: ZNF335. Tag Q3_24_NHS_review tag was added to gene: ZNF335.

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ZNF335 was added gene: ZNF335 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF335 were set to 23178126; 34982360; 29652087; 27540107 Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive, OMIM:615095