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Intellectual disability

Gene: ZNF599

Red List (low evidence)

ZNF599 (zinc finger protein 599)
EnsemblGeneIds (GRCh38): ENSG00000153896
EnsemblGeneIds (GRCh37): ENSG00000153896
ZNF599 is in 2 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
NOT IN OMIM

Publications

  • 0

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Distal chromosome 19q13.11 deletion syndrome (MIM:613026) is an AD neurodevelopmental disorder characterized by poor overall growth, slender habitus, microcephaly, DD, ID with poor or absent speech, and feeding difficulties. Plenty of cases of ID/DD in patients with the deletion, but ZNF599 not shown as a causative gene, so rated Red.
Created: 31 Oct 2017, 9:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Chromosome 19q13.11 deletion syndrome, distal, 613026 (includes intellectual disability and developmental delay)

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • ?Chromosome 19q13.11 deletion syndrome, distal, 613026 (includes intellectual disability and developmental delay)
Clinvar variants
Variants in ZNF599
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ZNF599 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene ZNF599 was set to ['22378287']

24 Oct 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for ZNF599 were set to

24 Oct 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for ZNF599 were set to

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ZNF599 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF599 was added to Intellectual disabilitypanel. Sources: Expert Review Red