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Mendeliome

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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems and the hands. Chilblains reported in 2 individuals.

28 individuals reported.
Created: 16 Apr 2022, 4:59 a.m. | Last Modified: 16 Apr 2022, 4:59 a.m.
Panel Version: 0.12955

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Stankiewicz-Isidor syndrome, MIM# 617516

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Stankiewicz-Isidor syndrome, MIM# 617516
OMIM
604450
Clinvar variants
Variants in PSMD12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmd12 has been classified as Green List (High Evidence).

16 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PSMD12 were changed from to Stankiewicz-Isidor syndrome, MIM# 617516

16 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PSMD12 were set to

16 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PSMD12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PSMD12 was added gene: PSMD12 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PSMD12 was set to Unknown