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Intellectual disability syndromic and non-syndromic

Gene: ZNF335

Green List (high evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

4 families overall reported:

1 family with affected members with homozygous mutation in the ZNF335 and autosomal recessive severe primary microcephaly-10. Functional evidence with patient lymphoblasts, cellular studies in vitro and in vivo mouse models.

1 patient with MCPH10 and compound heterozygous missense mutations.

2 unrelated boys with MCPH10 biallelic ZNF335 mutations.
Created: 4 Dec 2019, 12:38 p.m. | Last Modified: 4 Dec 2019, 12:38 p.m.
Panel Version: 0.302

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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

14 Jan 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).

4 Dec 2019, Gel status: 3

Set publications

Chirag Patel (Genetic Health Queensland)

Publications for gene ZNF335 were changed from PubMed: 23178126; 27540107; 29652087 to PubMed: 23178126; 27540107; 29652087

4 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from ZNF335. Source Expert list was added to ZNF335. Mode of inheritance for gene ZNF335 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF335 were changed from to Microcephaly 10, primary, autosomal recessive; OMIM #615095

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF335 was set to Unknown