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Intellectual disability

Gene: ZCCHC12

Red List (low evidence)

ZCCHC12 (zinc finger CCHC-type containing 12)
EnsemblGeneIds (GRCh38): ENSG00000174460
EnsemblGeneIds (GRCh37): ENSG00000174460
OMIM: 300701, Gene2Phenotype
ZCCHC12 is in 1 panel

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)

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

PMID:18798319 (2008) tested a large cohort (729) of male patients with ID and report on 4 variants (including 2 synonymous) in ZCCHC12 (called SIZN1 in the article). However, PMID:23871722 (2013) questions the role of ZCCHC12/SIZN1 in ID. For the 2 non-synonymous variants from PMID:18798319: c.1031C>T, p.Thr344Ile was found in 4 affected male siblings in one XLID family. Functional analysis found that the the protein activity was reduced by 30%. c.19C>T (p.Arg7Cys) was detected in 4 unrelated ID males but was also present in one control individual. PMID:23871722 (2013) points out that this latter variant is present in EVS with a MAF of 0.3% excluding its implication in ID. There are no further recent studies, and implication in ZCCHC12 in ID remains based on the finding of a variant in a single family. Therefore rated Red with 'watchlist' tag.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
nonsyndromic X-linked mental retardation; XLMR

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
Phenotypes
  • nonsyndromic X-linked mental retardation
  • XLMR
OMIM
300701
Clinvar variants
Variants in ZCCHC12
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 ZCCHC12 was set to ['26350204', ' 23871722', ' 18798319']

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)

ZCCHC12 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ZCCHC12 was added to Intellectual disabilitypanel. Sources: Expert Review Red