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  3. PSMC1
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Intellectual disability syndromic and non-syndromic

Gene: PSMC1

Red List (low evidence)
PSMC1 (proteasome 26S subunit, ATPase 1)
EnsemblGeneIds (GRCh38): ENSG00000100764
EnsemblGeneIds (GRCh37): ENSG00000100764
OMIM: 602706, Gene2Phenotype
PSMC1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071

Created: 15 Oct 2022, 8:15 p.m.
Last Modified: 15 Oct 2022, 8:15 p.m.
Panel version: 0.4998

Hazel Phillimore (Victorian Clinical Genetics Services)

Red List (low evidence)

Homozygosity mapping on one large consanguineous Bedouin kindred showed three affected children (out of the ten) to be homozygous for NM_002802.3:c.983T>C; p.(Ile328Thr).

Drosophila rescue experiments were carried out. Transgenic studies using drosophila with the silenced ortholog Rpt2 gene were rescued by the human wild-type PSMC1.

Three of the ten offspring of healthy consanguineous parents of Bedouin Israeli ancestry were affected with a similar phenotype of failure to thrive, developmental delay and severe intellectual disability, spastic tetraplegia with central hypotonia, chorea, as well as hearing loss. None of the three achieved verbal communication or ambulation (sitting / standing) at any age. They had mild dysmorphism of borderline dolichocephaly and microcephaly, prominent bushy eyebrows, flat midface, long nasal bridge and micrognathia. All three had micropenis with undescended testes. One of the affected (as a toddler) underwent thorough endocrinological analysis: testosterone and gonadotropin levels were low.
Sources: Literature
Created: 4 Aug 2022, 8:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes; Syndromic disease MONDO:0002254, PSMC1-related

Publications

Created: 4 Aug 2022, 8:17 a.m.

Panel version: 0.4872

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071
OMIM
602706
Clinvar variants
Variants in PSMC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PSMC1 were changed from spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes; Syndromic disease MONDO:0002254, PSMC1-related to Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071

4 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmc1 has been classified as Red List (Low Evidence).

4 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmc1 has been classified as Red List (Low Evidence).

4 Aug 2022, Gel status: 0

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

Hazel Phillimore (Victorian Clinical Genetics Services)

gene: PSMC1 was added gene: PSMC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PSMC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMC1 were set to PMID: 35861243 Phenotypes for gene: PSMC1 were set to spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes; Syndromic disease MONDO:0002254, PSMC1-related Review for gene: PSMC1 was set to RED