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Genetic epilepsy syndromes

Gene: ZDHHC9

Green List (high evidence)

ZDHHC9 (zinc finger DHHC-type containing 9)
EnsemblGeneIds (GRCh38): ENSG00000188706
EnsemblGeneIds (GRCh37): ENSG00000188706
OMIM: 300646, Gene2Phenotype
ZDHHC9 is in 4 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Kept rating as Green based on Green post-Webex review from Helen Lord.
Created: 9 Sep 2019, 10:48 a.m. | Last Modified: 9 Sep 2019, 10:48 a.m.
Panel Version: 1.321
Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.
Panel Version: 1.262

Helen Lord (Oxford Medical Genetics Laboratories)

Green List (high evidence)

Schirwani et al, 2018 - ZDHHC9-assoc X-linked ID. Table 1 - list of all the pathogenic variants in ZDHHC9 in all reported patient with a predicted protein change (13 diff variants). None of the 4 patients reported in this paper had seizures. In table 3 a comparison of features 8/25 (32%) had seizures.
Created: 5 Sep 2019, 2:22 p.m. | Last Modified: 5 Sep 2019, 2:22 p.m.
Panel Version: 1.261

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Catherine Snow (Genomics England)

ZDHHC9 has been rated Green by Deb Pal (King's College London)

ZDHHC9 variants have been identified as the cause of X-linked intellectual disability and is green on the ID panel. Some papers also report seizures.

Schirwani et al recently identified an additional 4 individuals with ZDHHC9 mutations. None of the individuals have epilepsy but the paper provided a summary of the phenotypes from all papers where ZDHHC9 mutations have been identified. In 8/25 (32%) epilepsy has been reported.
Most epilepsy cases have come from Barker et al (PMID:26000327) where 7/9 individuals with a ZDHHC9 variant had an epilepsy diagnosis.
Created: 4 Jul 2019, 4:18 p.m. | Last Modified: 15 Jul 2019, 8:52 a.m.
Panel Version: 0.71

Deb Pal (King's College London)

Green List (high evidence)

Amplexa CHE-114 epilepsy panel
Sources: Literature
Created: 21 Feb 2019, 4 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
intellectual disability; epilepsy

Publications

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Expert Review Green
  • Expert Review Green
  • Expert Review
Phenotypes
  • epilepsy
  • intellectual disability
  • Mental retardation, X-linked syndromic, Raymond type, 300799
OMIM
300646
Clinvar variants
Variants in ZDHHC9
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ZDHHC9.

17 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ZDHHC9.

22 Jul 2019, Gel status: 3

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to ZDHHC9. Source Expert Review was added to ZDHHC9. Added phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 for gene: ZDHHC9 Publications for gene ZDHHC9 were changed from 26000327 to 24357419; 26000327; 29681091 Rating Changed from No List (delete) to Green List (high evidence)

21 Feb 2019, Gel status: 0

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

Deb Pal (King's College London)

gene: ZDHHC9 was added gene: ZDHHC9 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZDHHC9 were set to 26000327 Phenotypes for gene: ZDHHC9 were set to intellectual disability; epilepsy Penetrance for gene: ZDHHC9 were set to unknown Review for gene: ZDHHC9 was set to GREEN gene: ZDHHC9 was marked as current diagnostic