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Intellectual disability

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 2 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
MENTAL RETARDATION X-LINKED TYPE 91 (MRX91)

Publications

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Possible DD-G2P gene for 'Mental retardation X-linked type 91' based on PMID:15915161 (2005) which describes a 29-year-old woman with severe nonsyndromic mental retardation and a balanced reciprocal translocation between chromosomes X and 15. The authors suggest that lack of ZDHHC15 transcripts contributes to the ID phenotype. PMID:26290131 (2015), questions the involvement of ZDHHC15 in ID, since a patient with normal intelligence had a breakpoint with disruption of ZDHHC15 and lack of ZDHHC15 expression. PMID:23871722 (2013) states that replication studies are needed to confirm an ID involvement for ZDHHC15, since no recent studies are available. Therefore rated Red with 'watchlist' tag.
Created: 31 Oct 2017, 9:24 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
?Mental retardation, X-linked 91, 300577

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • ?Mental retardation, X-linked 91, 300577
OMIM
300576
Clinvar variants
Variants in ZDHHC15
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 publications

Ellen McDonagh (Genomics England Curator)

Publications for gene ZDHHC15 was set to ['15915161']

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ZDHHC15 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ZDHHC15 was added to Intellectual disabilitypanel. Sources: Emory Genetics Laboratory