Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: PSMD12

PSMD12 (proteasome 26S subunit, non-ATPase 12)
EnsemblGeneIds (GRCh38): ENSG00000197170
EnsemblGeneIds (GRCh37): ENSG00000197170
OMIM: 604450, Gene2Phenotype
PSMD12 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A heterozygous variant was identified in the UK 100k genomes project (parents were not available for testing): c.1284G>A; p.Trp428* (PMID:34429528)
Sources: Literature
Created: 23 Jul 2023, 5:34 p.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 5:34 p.m.

Panel version: 4.152

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

604450

Clinvar variants

Variants in PSMD12

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: PSMD12 was added gene: PSMD12 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: PSMD12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMD12 were set to 34429528; 36980886 Phenotypes for gene: PSMD12 were set to craniosynostosis, MONDO:0015469 Review for gene: PSMD12 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: PSMD12