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Microcephaly
Gene: ZNF335

ZNF335 (zinc finger protein 335)
EnsemblGeneIds (GRCh38): ENSG00000198026
EnsemblGeneIds (GRCh37): ENSG00000198026
OMIM: 610827, Gene2Phenotype
ZNF335 is in 7 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 3 unrelated individuals with severe microcephaly (-3.24SD, -5SD, -9SD). Variants are all missense or in-frame del.
Created: 31 Aug 2020, 6:33 a.m. | Last Modified: 31 Aug 2020, 6:33 a.m.

Panel Version: 0.191

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 10, primary, autosomal recessive (MIM#615095)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Aug 2020, 6:33 a.m.
Last Modified: 31 Aug 2020, 6:33 a.m.
Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microcephaly 10, primary, autosomal recessive (MIM#615095)

OMIM

Clinvar variants

Variants in ZNF335

Penetrance

None

Publications

Panels with this gene

History Filter Activity

31 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf335 has been classified as Green List (High Evidence).

31 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF335 were changed from to Microcephaly 10, primary, autosomal recessive (MIM#615095)

31 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZNF335 were set to 23178126; 27540107; 29652087

31 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZNF335 were set to

31 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZNF335 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZNF335 was added gene: ZNF335 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZNF335 was set to Unknown