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  3. ZDHHC9
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Cerebral Palsy

Gene: ZDHHC9

Amber List (moderate evidence)
ZDHHC9 (zinc finger DHHC-type containing 9)
EnsemblGeneIds (GRCh38): ENSG00000188706
EnsemblGeneIds (GRCh37): ENSG00000188706
OMIM: 300646, Gene2Phenotype
ZDHHC9 is in 10 panels

1 review

Clare van Eyk (University of Adelaide)

I don't know

Additional hemizygous male (maternally inherited) with splice variant described in WGS study of clinically confirmed CP (PMID: 38553553).
Created: 28 Jun 2024, 6:25 a.m. | Last Modified: 28 Jun 2024, 6:25 a.m.
Panel Version: 1.354
Single males hemizygous for P/LP variants reported in each of 2 large CP sequencing studies (PMID: 33528536; PMID: 38693247). Detailed clinical information not supplied for either. Genome-wide significant burden of rare variants in ZDHHC9 reported in panel resequencing study of CP cohort (PMID: 31700678).
Sources: Literature
Created: 26 Jun 2024, 3:28 a.m.

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

Phenotypes
Intellectual developmental disorder, X-linked syndromic, Raymond type, MIM#300799

Publications

Created: 26 Jun 2024, 3:28 a.m.

Panel version: 1.354

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Raymond type, MIM#300799
OMIM
300646
Clinvar variants
Variants in ZDHHC9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jun 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZDHHC9 were set to PMID: 33528536; PMID: 38693247

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zdhhc9 has been classified as Amber List (Moderate Evidence).

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zdhhc9 has been classified as Amber List (Moderate Evidence).

26 Jun 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: ZDHHC9 was added gene: ZDHHC9 was added to Cerebral Palsy. 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 PMID: 33528536; PMID: 38693247 Phenotypes for gene: ZDHHC9 were set to Intellectual developmental disorder, X-linked syndromic, Raymond type, MIM#300799 Review for gene: ZDHHC9 was set to AMBER