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Intellectual disability syndromic and non-syndromic

Gene: PSMC5

Green List (high evidence)

PSMC5 (proteasome 26S subunit, ATPase 5)
EnsemblGeneIds (GRCh38): ENSG00000087191
EnsemblGeneIds (GRCh37): ENSG00000087191
OMIM: 601681, Gene2Phenotype
PSMC5 is in 2 panels

2 reviews

Rylee Peters (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 38776958 - 7x heterozygous individuals with neurodevelopmental disorder comprising of three different missense variants and one nonsense variant. 6x individuals are de novo; inheritance is unknown for 1x individual.

PMID: 38293138 - Identified 23 unique variants in PSMC5 associated with neurodevelopmental disorder in 38 unrelated individuals. Abnormal neurodevelopment was evident in all subjects, with developmental delay in 35/38 (92%) cases, speech absence or delay (33/35; 94%), abnormal muscle tone (26/34; 76%), motor delay or impairment (27/36; 75%), intellectual disability (19/26 (73%)), abnormal behaviour (23/34; 68%, including autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD)), and seizures (10/37; 27%).
Created: 3 Jul 2024, 3:21 a.m. | Last Modified: 3 Jul 2024, 3:21 a.m.
Panel Version: 0.6050

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), PSMC5-related

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 10 de novo variants (1 in-frame, 9 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
Sources: Literature
Created: 4 Nov 2020, 4:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental disorders

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), PSMC5-related
OMIM
601681
Clinvar variants
Variants in PSMC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jul 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PSMC5 were changed from Developmental disorders to Neurodevelopmental disorder (MONDO#0700092), PSMC5-related

3 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmc5 has been classified as Green List (High Evidence).

4 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmc5 has been classified as Amber List (Moderate Evidence).

4 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmc5 has been classified as Amber List (Moderate Evidence).

4 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PSMC5 was added gene: PSMC5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSMC5 were set to 33057194 Phenotypes for gene: PSMC5 were set to Developmental disorders Review for gene: PSMC5 was set to AMBER