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Intellectual disability

Gene: PSMD12

Green List (high evidence)

PSMD12 (proteasome 26S subunit, non-ATPase 12)
EnsemblGeneIds (GRCh38): ENSG00000197170
EnsemblGeneIds (GRCh37): ENSG00000197170
OMIM: 604450, Gene2Phenotype
PSMD12 is in 2 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases. Other variable features noted, including congenital structural malformations. Will need increased evidence as to frequency of these to consider inclusion on other panels.
Created: 13 Nov 2017, 4:20 p.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Amber to Green: >3 unrelated cases of variants in PSMD12 resulting in Stankiewicz-Isidor syndrome (MIM:617516) from PMID:28132691. Stankiewicz-Isidor syndrome is an intellectual disability syndrome.
Created: 15 Aug 2017, 12:10 p.m.
Comment on mode of inheritance: Monoallelic MOI supported by OMIM and PMID:28132691.
Created: 15 Aug 2017, 12:07 p.m.
Kury et al. (2017, PMID:28132691) report 10 unrelated individuals exhibiting a syndromic form of intellectual disability (ID) due to copy-number variant (CNV) deletions or single-nucleotide variants (SNVs) involving PSMD12. Of the SNVs, 3 patients have heterozygous truncating variants in PSMD12, and 1 patient has a splice site mutation in the PSMD12 gene.
Created: 15 Aug 2017, 12:04 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_manual . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 8:10 p.m.

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

Publications

  • Manual assessment of Genes of interest from literature searches and personal communication

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Promoted gene status from Amber to Green, four unrelated patients with Stankiewicz-Isidor syndrome were identified by Kury et al. (2017). All patients had delayed development with intellectual disability, and most also had delayed motor development and hypotonia with speech delay.
Created: 29 Nov 2017, 2:10 p.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 3:25 p.m.

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

Phenotypes
Stankiewicz-Isidor syndrome, 617516; Syndromic Neurodevelopmental Disorder

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Stankiewicz-Isidor syndrome, 617516
  • Syndromic Neurodevelopmental Disorder
OMIM
604450
Clinvar variants
Variants in PSMD12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PSMD12.

12 Mar 2018, Gel status: 3

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.

15 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

15 Aug 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for PSMD12 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Aug 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for PSMD12 were set to 28132691

15 Aug 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for PSMD12 were set to Syndromic Neurodevelopmental Disorder; Stankiewicz-Isidor syndrome, 617516; Intellectual disability; Delayed development

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

PSMD12 was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

PSMD12 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene