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  2. Intellectual disability syndromic and non-syndromic
  3. ZDHHC15
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Intellectual disability syndromic and non-syndromic

Gene: ZDHHC15

Red List (low evidence)
ZDHHC15 (zinc finger DHHC-type containing 15)
EnsemblGeneIds (GRCh38): ENSG00000102383
EnsemblGeneIds (GRCh37): ENSG00000102383
OMIM: 300576, Gene2Phenotype
ZDHHC15 is in 3 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified DISPUTED by ClinGen ID and Autism GCEP on 31/07/2021 - https://search.clinicalgenome.org/CCID:006573
Created: 20 May 2024, 3:37 a.m. | Last Modified: 20 May 2024, 3:37 a.m.
Panel Version: 0.5821

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

Phenotypes
X-linked complex neurodevelopmental disorder MONDO:0100148

Publications

  • https://search.clinicalgenome.org/CCID:006573

Created: 20 May 2024, 3:37 a.m.
Last Modified: 20 May 2024, 3:37 a.m.
Panel version: 0.5821

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Lewis et al Neurology Genetics 2021: conflicting results from functional studies, note several variants inherited.

Functional analysis of 4 ZDHHC15 variants - x2 Jin et al Nat Genet 2020 PMID 32989326, others identified through GeneMatcher

Yeast cells expressing ZDHHC15 p.L13P (Jin et al, maternally inherited), p.K115R (maternally inherited) and p.S330p were indistinguishable from cells harboring the reference ZDHHC15 allele, however those expressing p.H158R (also reported in Jin et al, maternally inherited) disrupted normal protein function.
Created: 4 Oct 2021, 6:30 a.m. | Last Modified: 4 Oct 2021, 6:30 a.m.
Panel Version: 0.4166

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

Phenotypes
Mental retardation, X-linked 91, 300577

Publications

Created: 4 Oct 2021, 6:30 a.m.
Last Modified: 4 Oct 2021, 6:30 a.m.
Panel version: 0.4166

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

no OMIM phenotype number.
Conflicting evidence:
1 case with intellectual disability and balanced translocation with breakpoints near the ZDHHC15 gene - functional studies showing absence of ZDHHC15 transcript variants.
1 case with NO intellectual disability and balanced translocation with breakpoints in the ZDHHC15 gene - functional studies showing no gene expression in the patient's peripheral blood.
Created: 4 Dec 2019, 12:52 p.m. | Last Modified: 4 Dec 2019, 12:52 p.m.
Panel Version: 0.307
Created: 4 Dec 2019, 12:52 p.m.
Last Modified: 4 Dec 2019, 12:52 p.m.
Panel version: 0.307

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Intellectual disability, X-linked 91, 300577
Tags
disputed
OMIM
300576
Clinvar variants
Variants in ZDHHC15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZDHHC15 were changed from Mental retardation, X-linked 91, 300577 to Intellectual disability, X-linked 91, 300577

20 May 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: ZDHHC15.

4 Oct 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZDHHC15 were changed from to Mental retardation, X-linked 91, 300577

4 Oct 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZDHHC15 were set to

4 Oct 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZDHHC15 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zdhhc15 has been classified as Red List (Low Evidence).

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: zdhhc15 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZDHHC15 was added gene: ZDHHC15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZDHHC15 was set to Unknown