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  3. ZCCHC11
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: ZCCHC11

Red List (low evidence)
ZCCHC11 (zinc finger CCHC-type containing 11)
EnsemblGeneIds (GRCh38): ENSG00000134744
EnsemblGeneIds (GRCh37): ENSG00000134744
OMIM: 613692, Gene2Phenotype
ZCCHC11 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

An individual was described with metopic synostosis and a novel de novo frameshift variant in ZCCHC11 (p.Glu1275fs) (PMID:28808027).
Sources: Literature
Created: 23 Jul 2023, 8:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 8:01 p.m.

Panel version: 4.170

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
613692
Clinvar variants
Variants in ZCCHC11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ZCCHC11 was added gene: ZCCHC11 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: ZCCHC11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZCCHC11 were set to 28808027; 36980886 Phenotypes for gene: ZCCHC11 were set to craniosynostosis, MONDO:0015469 Review for gene: ZCCHC11 was set to RED